Two Patients With EP300 Mutations and Facial Dysmorphism Different From the Classic Rubinstein-Taybi Syndrome
- Author
- BARTSCH, Oliver1 ; LABONTE, Janette1 ; ALBRECHT, Beate2 ; WIECZOREK, Dagmar2 ; LECHNO, Stanislav1 ; ZECHNER, Ulrich1 ; HAAF, Thomas1
[1] Institut für Humangenetik, Universitätsmedizin der Johannes Gutenberg-Universität Mainz, Mainz, Germany
[2] Institut für Humangenetik, Universitätsklinikum der Universität Duisburg-Essen, Essen, Germany - Source
American journal of medical genetics. Part A. 2010, Vol 152, Num 1, pp 181-184, 4 p ; ref : 1/4 p
- Publisher
- Wiley-Liss, Chichester
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Author keyword
- EP300 Rubinstein—Taybi syndrome phenotype
- Keyword (fr)
- Dysmorphie faciale Homme Malade Mutation Nanisme de Rubinstein-Taybi Phénotype Maladie congénitale Pathologie de l'appareil génital mâle Pathologie du système nerveux Pathologie du système ostéoarticulaire Stomatologie
- Keyword (en)
- Dysmorphic facies Human Patient Mutation Rubinstein-Taybi dwarfism Phenotype Congenital disease Male genital diseases Nervous system diseases Diseases of the osteoarticular system Stomatology
- Keyword (es)
- Dismorfia facial Hombre Enfermo Mutación Enanismo Rubinstein-Taybi Fenotipo Enfermedad congénita Aparato genital macho patología Sistema nervioso patología Sistema osteoarticular patología Estomatología
- 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
- 22308704
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.33153 
https://dx.doi.org/10.1002/ajmg.a.33153
"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.33153\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:109:\"Two Patients With EP300 Mutations and Facial Dysmorphism Different From the Classic Rubinstein-Taybi 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:\"2010\";s:9:\"\u0000*\u0000volume\";s:3:\"152\";s:8:\"\u0000*\u0000issue\";s:1:\"1\";s:8:\"\u0000*\u0000spage\";s:3:\"181\";s:8:\"\u0000*\u0000epage\";s:3:\"184\";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:7:\"BARTSCH\";s:10:\"\u0000*\u0000aufirst\";s:6:\"Oliver\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:6:{i:0;s:16:\"LABONTE, Janette\";i:1;s:15:\"ALBRECHT, Beate\";i:2;s:17:\"WIECZOREK, Dagmar\";i:3;s:17:\"LECHNO, Stanislav\";i:4;s:15:\"ZECHNER, Ulrich\";i:5;s:12:\"HAAF, Thomas\";}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:109:\"Two Patients With EP300 Mutations and Facial Dysmorphism Different From the Classic Rubinstein-Taybi Syndrome\";s:8:\"\u0000*\u0000place\";s:10:\"Chichester\";s:6:\"\u0000*\u0000pub\";s:10:\"Wiley-Liss\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"4\";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.33153\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:109:\"Two Patients With EP300 Mutations and Facial Dysmorphism Different From the Classic Rubinstein-Taybi 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:\"2010\";s:9:\"\u0000*\u0000volume\";s:3:\"152\";s:8:\"\u0000*\u0000issue\";s:1:\"1\";s:8:\"\u0000*\u0000spage\";s:3:\"181\";s:8:\"\u0000*\u0000epage\";s:3:\"184\";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:7:\"BARTSCH\";s:10:\"\u0000*\u0000aufirst\";s:6:\"Oliver\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:6:{i:0;s:16:\"LABONTE, Janette\";i:1;s:15:\"ALBRECHT, Beate\";i:2;s:17:\"WIECZOREK, Dagmar\";i:3;s:17:\"LECHNO, Stanislav\";i:4;s:15:\"ZECHNER, Ulrich\";i:5;s:12:\"HAAF, Thomas\";}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:109:\"Two Patients With EP300 Mutations and Facial Dysmorphism Different From the Classic Rubinstein-Taybi Syndrome\";s:8:\"\u0000*\u0000place\";s:10:\"Chichester\";s:6:\"\u0000*\u0000pub\";s:10:\"Wiley-Liss\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"4\";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.33153\";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.33153\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:109:\"Two Patients With EP300 Mutations and Facial Dysmorphism Different From the Classic Rubinstein-Taybi 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:\"2010\";s:9:\"\u0000*\u0000volume\";s:3:\"152\";s:8:\"\u0000*\u0000issue\";s:1:\"1\";s:8:\"\u0000*\u0000spage\";s:3:\"181\";s:8:\"\u0000*\u0000epage\";s:3:\"184\";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:7:\"BARTSCH\";s:10:\"\u0000*\u0000aufirst\";s:6:\"Oliver\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:6:{i:0;s:16:\"LABONTE, Janette\";i:1;s:15:\"ALBRECHT, Beate\";i:2;s:17:\"WIECZOREK, Dagmar\";i:3;s:17:\"LECHNO, Stanislav\";i:4;s:15:\"ZECHNER, Ulrich\";i:5;s:12:\"HAAF, Thomas\";}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:109:\"Two Patients With EP300 Mutations and Facial Dysmorphism Different From the Classic Rubinstein-Taybi Syndrome\";s:8:\"\u0000*\u0000place\";s:10:\"Chichester\";s:6:\"\u0000*\u0000pub\";s:10:\"Wiley-Liss\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"4\";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.33153\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:109:\"Two Patients With EP300 Mutations and Facial Dysmorphism Different From the Classic Rubinstein-Taybi 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:\"2010\";s:9:\"\u0000*\u0000volume\";s:3:\"152\";s:8:\"\u0000*\u0000issue\";s:1:\"1\";s:8:\"\u0000*\u0000spage\";s:3:\"181\";s:8:\"\u0000*\u0000epage\";s:3:\"184\";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:7:\"BARTSCH\";s:10:\"\u0000*\u0000aufirst\";s:6:\"Oliver\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:6:{i:0;s:16:\"LABONTE, Janette\";i:1;s:15:\"ALBRECHT, Beate\";i:2;s:17:\"WIECZOREK, Dagmar\";i:3;s:17:\"LECHNO, Stanislav\";i:4;s:15:\"ZECHNER, Ulrich\";i:5;s:12:\"HAAF, Thomas\";}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:109:\"Two Patients With EP300 Mutations and Facial Dysmorphism Different From the Classic Rubinstein-Taybi Syndrome\";s:8:\"\u0000*\u0000place\";s:10:\"Chichester\";s:6:\"\u0000*\u0000pub\";s:10:\"Wiley-Liss\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"4\";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.33153\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:109:\"Two Patients With EP300 Mutations and Facial Dysmorphism Different From the Classic Rubinstein-Taybi 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:\"2010\";s:9:\"\u0000*\u0000volume\";s:3:\"152\";s:8:\"\u0000*\u0000issue\";s:1:\"1\";s:8:\"\u0000*\u0000spage\";s:3:\"181\";s:8:\"\u0000*\u0000epage\";s:3:\"184\";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:7:\"BARTSCH\";s:10:\"\u0000*\u0000aufirst\";s:6:\"Oliver\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:6:{i:0;s:16:\"LABONTE, Janette\";i:1;s:15:\"ALBRECHT, Beate\";i:2;s:17:\"WIECZOREK, Dagmar\";i:3;s:17:\"LECHNO, Stanislav\";i:4;s:15:\"ZECHNER, Ulrich\";i:5;s:12:\"HAAF, Thomas\";}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:109:\"Two Patients With EP300 Mutations and Facial Dysmorphism Different From the Classic Rubinstein-Taybi Syndrome\";s:8:\"\u0000*\u0000place\";s:10:\"Chichester\";s:6:\"\u0000*\u0000pub\";s:10:\"Wiley-Liss\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"4\";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
