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...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:BMC Med Genet
Auteurs principaux: Siavrienė, Evelina, Petraitytė, Gunda, Mikštienė, Violeta, Rančelis, Tautvydas, Maldžienė, Živilė, Morkūnienė, Aušra, Byčkova, Jekaterina, Utkus, Algirdas, Kučinskas, Vaidutis, Preikšaitienė, Eglė
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2019
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6637606/
https://ncbi.nlm.nih.gov/pubmed/31315586
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0859-y
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires