1.9 Mb Microdeletion of 21q22.11 Within Braddock―Carey Contiguous Gene Deletion Syndrome Region: Dissecting the Phenotype
- Author
- IZUMI, Kosuke1 ; BROOKS, Susan S2 ; FERET, Holly A1 ; ZACKAI, Elaine H1
[1] Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States
[2] Department of Pediatrics, Division of Genetics, Robert Wood Johnson Medical School, New Brunswick, New Jersey, United States - Source
American journal of medical genetics. Part A. 2012, Vol 158, Num 7, pp 1535-1541, 7 p ; ref : 1 p.1/4
- Publisher
- Wiley-Liss, Chichester
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Author keyword
- Pierre Robin sequence agenesis of the corpus callosum cleft palate micrognathia pulmonary hypertension
- Keyword (fr)
- Agénésie Corps calleux Délétion Fente palatine Hypertension artérielle pulmonaire Malformation Micrognathie Phénotype Syndrome de Pierre Robin Syndrome du gène contigu Microdélétion Aberration chromosomique Maladie congénitale Pathologie de l'appareil circulatoire Pathologie de l'appareil respiratoire Pathologie de la cavité buccale Stomatologie
- Keyword (en)
- Agenesis Corpus callosum Deletion Cleft palate Pulmonary hypertension Malformation Micrognathia Phenotype Pierre Robin syndrome Contiguous gene syndrome Microdeletion Chromosomal aberration Congenital disease Cardiovascular disease Respiratory disease Oral cavity disease Stomatology
- Keyword (es)
- Agenesia Cuerpo calloso Deleción Palato hendido Hipertensión arterial pulmonar Malformación Micrognatia Fenotipo Pierre Robin síndrome Síndrome de genes contiguos Microdeletion Aberración cromosómica Enfermedad congénita Aparato circulatorio patología Aparato respiratorio patología Cavidad bucal patología Estomatología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B10 Otorhinolaryngology. Stomatology / 002B10C Facial bones, jaws, teeth, parodontium: diseases, semeiology / 002B10C02 Non tumoral diseases
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B11 Pneumology / 002B11C Pulmonary hypertension. Acute cor pulmonale. Pulmonary embolism. Pulmonary vascular diseases
- Discipline
- Medical genetics Otorhinolaryngology. Stomatology Pulmonology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 26067489
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
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DOI
10.1002/ajmg.a.35368 
https://dx.doi.org/10.1002/ajmg.a.35368
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