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Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome

CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities (including deafness) is a genetic disorder characterized by a specific and a recognizable pattern of anomalies. De novo m...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Zentner, Gabriel E., Layman, Wanda S., Martin, Donna M., Scacheri, Peter C.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2010
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2918278/
https://ncbi.nlm.nih.gov/pubmed/20186815
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33323
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