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A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report
BACKGROUND: CHARGE syndrome (MIM# 214800)—which is characterised by a number of congenital anomalies including coloboma, ear anomalies, deafness, facial anomalies, heart defects, atresia choanae, genital hypoplasia, growth retardation, and developmental delay—is caused by a heterozygous variant in t...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6637606/ https://www.ncbi.nlm.nih.gov/pubmed/31315586 http://dx.doi.org/10.1186/s12881-019-0859-y |