Atypical CHARGE associated with a novel frameshift mutation of CHD7 in a Chinese neonatal patient

BACKGROUND: CHARGE syndrome is an autosomal dominant malformation disorder caused by heterozygous loss of function mutations in the chromatin remodeler CHD7, which has been estimated to occur in 1:10,000 births worldwide. It is a genetic disorder closely resembles other pattern of anomalies. Genetic...

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Detalles Bibliográficos
Autores principales: Xu, Yan-ping, Shi, Li-ping, Zhu, Jiajun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6020284/
https://www.ncbi.nlm.nih.gov/pubmed/29945602
http://dx.doi.org/10.1186/s12887-018-1181-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6020284/
https://www.ncbi.nlm.nih.gov/pubmed/29945602
http://dx.doi.org/10.1186/s12887-018-1181-0

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