Clinical characterization of autosomal dominant and recessive variants of robinow syndrome
- Author
- MAZZEU, Juliana Forte1 2 ; PARDONO, Eliete1 ; VIANNA-MORGANTE, Angela M1 ; RICHIERI-COSTA, Antonio3 ; AE KIM, Chong4 ; BRUNONI, Décio5 ; MARTELLI, Lucia6 ; DE ANDRADE, Carlos Eugenio F7 ; COLIN, Guilherme8 ; OTTO, Paulo A1
[1] Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, Brazil
[2] Robinow Syndrome Foundation, Minnesota, United States
[3] Hospital de Reabilitaçâo de Anomalias Crânio-faciais, Universidade de São Paulo, Bauru, Brazil
[4] Departamento de Genética, Instituto da Criança, Universidade de São Paulo, Sã Paulo, Brazil
[5] Departamento de Genética Médica, Universidade Fédéral de São Paulo, São Paulo, Brazil
[6] Departamento de Genética, Faculdade de Medicina, Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, Brazil
[7] Departamento de Genética, Hospital Santa Marcelina, São Paulo, Brazil
[8] Departamento de Genética Médica, Univille, Joinville, Brazil - Source
American journal of medical genetics. Part A. 2007, Vol 143, Num 4, pp 320-325, 6 p ; ref : 1/5 p
- Publisher
- Wiley-Liss, Hoboken, NJ
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- Robinow syndrome differential diagnosis genetic heterogeneity
- Keyword (fr)
- Caractère autosomique Caractère dominant Caractère récessif Caractérisation Diagnostic différentiel Diversité génétique Maladie héréditaire Robinow syndrome Variant Ostéochondrodysplasie Système ostéoarticulaire pathologie
- Keyword (en)
- Autosomal character Dominant character Recessive character Characterization Differential diagnostic Genetic diversity Genetic disease Robinow syndrome Variant Osteochondrodysplasia Diseases of the osteoarticular system
- Keyword (es)
- Carácter autosómico Carácter dominante Carácter recesivo Caracterización Diagnóstico diferencial Diversidad genética Enfermedad hereditaria Robinow síndrome Variante Osteocondrodisplasia Sistema osteoarticular patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B15 Diseases of the osteoarticular system / 002B15H Malformations and congenital and or hereditary diseases involving bones. Joint deformations
- Discipline
- Medical genetics Osteoarticular pathology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 18539375
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
Access to the document
Install on your browser
DOI
10.1002/ajmg.a.31592 
https://dx.doi.org/10.1002/ajmg.a.31592
"O:13:\"PanistOpenUrl\":36:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000idc\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:20:\"10.1002\/ajmg.a.31592\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:90:\"Clinical characterization of autosomal dominant and recessive variants of robinow syndrome\";s:9:\"\u0000*\u0000jtitle\";s:44:\"American journal of medical genetics. Part A\";s:9:\"\u0000*\u0000stitle\";s:26:\"Am. j. med. genet., Part A\";s:7:\"\u0000*\u0000date\";s:4:\"2007\";s:9:\"\u0000*\u0000volume\";s:3:\"143\";s:8:\"\u0000*\u0000issue\";s:1:\"4\";s:8:\"\u0000*\u0000spage\";s:3:\"320\";s:8:\"\u0000*\u0000epage\";s:3:\"325\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"1552-4825\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:6:\"MAZZEU\";s:10:\"\u0000*\u0000aufirst\";s:13:\"Juliana Forte\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:9:{i:0;s:15:\"PARDONO, Eliete\";i:1;s:25:\"VIANNA-MORGANTE, Angela M\";i:2;s:23:\"RICHIERI-COSTA, Antonio\";i:3;s:13:\"AE KIM, Chong\";i:4;s:15:\"BRUNONI, D\u00e9cio\";i:5;s:15:\"MARTELLI, Lucia\";i:6;s:28:\"DE ANDRADE, Carlos Eugenio F\";i:7;s:16:\"COLIN, Guilherme\";i:8;s:13:\"OTTO, Paulo A\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:90:\"Clinical characterization of autosomal dominant and recessive variants of robinow syndrome\";s:8:\"\u0000*\u0000place\";s:11:\"Hoboken, NJ\";s:6:\"\u0000*\u0000pub\";s:10:\"Wiley-Liss\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"6\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Panist access
"O:12:\"IstexOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:20:\"10.1002\/ajmg.a.31592\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:90:\"Clinical characterization of autosomal dominant and recessive variants of robinow syndrome\";s:9:\"\u0000*\u0000jtitle\";s:44:\"American journal of medical genetics. Part A\";s:9:\"\u0000*\u0000stitle\";s:26:\"Am. j. med. genet., Part A\";s:7:\"\u0000*\u0000date\";s:4:\"2007\";s:9:\"\u0000*\u0000volume\";s:3:\"143\";s:8:\"\u0000*\u0000issue\";s:1:\"4\";s:8:\"\u0000*\u0000spage\";s:3:\"320\";s:8:\"\u0000*\u0000epage\";s:3:\"325\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"1552-4825\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:6:\"MAZZEU\";s:10:\"\u0000*\u0000aufirst\";s:13:\"Juliana Forte\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:9:{i:0;s:15:\"PARDONO, Eliete\";i:1;s:25:\"VIANNA-MORGANTE, Angela M\";i:2;s:23:\"RICHIERI-COSTA, Antonio\";i:3;s:13:\"AE KIM, Chong\";i:4;s:15:\"BRUNONI, D\u00e9cio\";i:5;s:15:\"MARTELLI, Lucia\";i:6;s:28:\"DE ANDRADE, Carlos Eugenio F\";i:7;s:16:\"COLIN, Guilherme\";i:8;s:13:\"OTTO, Paulo A\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:90:\"Clinical characterization of autosomal dominant and recessive variants of robinow syndrome\";s:8:\"\u0000*\u0000place\";s:11:\"Hoboken, NJ\";s:6:\"\u0000*\u0000pub\";s:10:\"Wiley-Liss\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"6\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Istex access
"O:16:\"UnpaywallOpenUrl\":35:{s:8:\"\u0000*\u0000email\";s:27:\"assistance-portail@inist.fr\";s:6:\"\u0000*\u0000fmt\";N;s:6:\"\u0000*\u0000doi\";s:20:\"10.1002\/ajmg.a.31592\";s:6:\"\u0000*\u0000pii\";N;s:7:\"\u0000*\u0000pmid\";N;s:9:\"\u0000*\u0000atitle\";N;s:9:\"\u0000*\u0000jtitle\";N;s:9:\"\u0000*\u0000stitle\";N;s:7:\"\u0000*\u0000date\";N;s:9:\"\u0000*\u0000volume\";N;s:8:\"\u0000*\u0000issue\";N;s:8:\"\u0000*\u0000spage\";N;s:8:\"\u0000*\u0000epage\";N;s:8:\"\u0000*\u0000pages\";N;s:7:\"\u0000*\u0000issn\";N;s:8:\"\u0000*\u0000eissn\";N;s:9:\"\u0000*\u0000aulast\";N;s:10:\"\u0000*\u0000aufirst\";N;s:9:\"\u0000*\u0000auinit\";N;s:10:\"\u0000*\u0000auinitm\";N;s:5:\"\u0000*\u0000au\";N;s:9:\"\u0000*\u0000aucorp\";N;s:7:\"\u0000*\u0000isbn\";N;s:8:\"\u0000*\u0000coden\";N;s:8:\"\u0000*\u0000genre\";N;s:7:\"\u0000*\u0000part\";N;s:9:\"\u0000*\u0000btitle\";N;s:8:\"\u0000*\u0000title\";N;s:8:\"\u0000*\u0000place\";N;s:6:\"\u0000*\u0000pub\";N;s:10:\"\u0000*\u0000edition\";N;s:9:\"\u0000*\u0000tpages\";N;s:9:\"\u0000*\u0000series\";N;s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";N;}"
Unpaywall access
"O:16:\"EuropePMCOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:20:\"10.1002\/ajmg.a.31592\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:90:\"Clinical characterization of autosomal dominant and recessive variants of robinow syndrome\";s:9:\"\u0000*\u0000jtitle\";s:44:\"American journal of medical genetics. Part A\";s:9:\"\u0000*\u0000stitle\";s:26:\"Am. j. med. genet., Part A\";s:7:\"\u0000*\u0000date\";s:4:\"2007\";s:9:\"\u0000*\u0000volume\";s:3:\"143\";s:8:\"\u0000*\u0000issue\";s:1:\"4\";s:8:\"\u0000*\u0000spage\";s:3:\"320\";s:8:\"\u0000*\u0000epage\";s:3:\"325\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"1552-4825\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:6:\"MAZZEU\";s:10:\"\u0000*\u0000aufirst\";s:13:\"Juliana Forte\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:9:{i:0;s:15:\"PARDONO, Eliete\";i:1;s:25:\"VIANNA-MORGANTE, Angela M\";i:2;s:23:\"RICHIERI-COSTA, Antonio\";i:3;s:13:\"AE KIM, Chong\";i:4;s:15:\"BRUNONI, D\u00e9cio\";i:5;s:15:\"MARTELLI, Lucia\";i:6;s:28:\"DE ANDRADE, Carlos Eugenio F\";i:7;s:16:\"COLIN, Guilherme\";i:8;s:13:\"OTTO, Paulo A\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:90:\"Clinical characterization of autosomal dominant and recessive variants of robinow syndrome\";s:8:\"\u0000*\u0000place\";s:11:\"Hoboken, NJ\";s:6:\"\u0000*\u0000pub\";s:10:\"Wiley-Liss\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"6\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Europe PubMed Central access
"O:11:\"BaseOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:20:\"10.1002\/ajmg.a.31592\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:90:\"Clinical characterization of autosomal dominant and recessive variants of robinow syndrome\";s:9:\"\u0000*\u0000jtitle\";s:44:\"American journal of medical genetics. Part A\";s:9:\"\u0000*\u0000stitle\";s:26:\"Am. j. med. genet., Part A\";s:7:\"\u0000*\u0000date\";s:4:\"2007\";s:9:\"\u0000*\u0000volume\";s:3:\"143\";s:8:\"\u0000*\u0000issue\";s:1:\"4\";s:8:\"\u0000*\u0000spage\";s:3:\"320\";s:8:\"\u0000*\u0000epage\";s:3:\"325\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"1552-4825\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:6:\"MAZZEU\";s:10:\"\u0000*\u0000aufirst\";s:13:\"Juliana Forte\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:9:{i:0;s:15:\"PARDONO, Eliete\";i:1;s:25:\"VIANNA-MORGANTE, Angela M\";i:2;s:23:\"RICHIERI-COSTA, Antonio\";i:3;s:13:\"AE KIM, Chong\";i:4;s:15:\"BRUNONI, D\u00e9cio\";i:5;s:15:\"MARTELLI, Lucia\";i:6;s:28:\"DE ANDRADE, Carlos Eugenio F\";i:7;s:16:\"COLIN, Guilherme\";i:8;s:13:\"OTTO, Paulo A\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:90:\"Clinical characterization of autosomal dominant and recessive variants of robinow syndrome\";s:8:\"\u0000*\u0000place\";s:11:\"Hoboken, NJ\";s:6:\"\u0000*\u0000pub\";s:10:\"Wiley-Liss\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"6\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Base Search access
"O:12:\"ArXivOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:20:\"10.1002\/ajmg.a.31592\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:90:\"Clinical characterization of autosomal dominant and recessive variants of robinow syndrome\";s:9:\"\u0000*\u0000jtitle\";s:44:\"American journal of medical genetics. Part A\";s:9:\"\u0000*\u0000stitle\";s:26:\"Am. j. med. genet., Part A\";s:7:\"\u0000*\u0000date\";s:4:\"2007\";s:9:\"\u0000*\u0000volume\";s:3:\"143\";s:8:\"\u0000*\u0000issue\";s:1:\"4\";s:8:\"\u0000*\u0000spage\";s:3:\"320\";s:8:\"\u0000*\u0000epage\";s:3:\"325\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"1552-4825\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:6:\"MAZZEU\";s:10:\"\u0000*\u0000aufirst\";s:13:\"Juliana Forte\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:9:{i:0;s:15:\"PARDONO, Eliete\";i:1;s:25:\"VIANNA-MORGANTE, Angela M\";i:2;s:23:\"RICHIERI-COSTA, Antonio\";i:3;s:13:\"AE KIM, Chong\";i:4;s:15:\"BRUNONI, D\u00e9cio\";i:5;s:15:\"MARTELLI, Lucia\";i:6;s:28:\"DE ANDRADE, Carlos Eugenio F\";i:7;s:16:\"COLIN, Guilherme\";i:8;s:13:\"OTTO, Paulo A\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:90:\"Clinical characterization of autosomal dominant and recessive variants of robinow syndrome\";s:8:\"\u0000*\u0000place\";s:11:\"Hoboken, NJ\";s:6:\"\u0000*\u0000pub\";s:10:\"Wiley-Liss\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"6\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
arXiv access
