Symmetrical Chorioretinal Colobomata with Craniovertebral Junction Anomalies in CHARGE Syndrome - A Case Report with Review of Literature

CHARGE syndrome is a common cause of congenital anomalies. Its rate of incidence is about 1:10,000. It is phenotypically heterogeneous, usually a sporadic or autosomal dominant disorder resulting from a mutation in the CHD7 (chromodomain helicase DNA-binding protein) gene. Since the time it was firs...

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Detalles Bibliográficos
Autores principales: Natung, Tanie, Goyal, Amit, Handique, Akash, Kapoor, Manish
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3952380/
https://www.ncbi.nlm.nih.gov/pubmed/24678437
http://dx.doi.org/10.4103/2156-7514.126046

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3952380/
https://www.ncbi.nlm.nih.gov/pubmed/24678437
http://dx.doi.org/10.4103/2156-7514.126046

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