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...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:BMC Med Genet
Egile Nagusiak: Siavrienė, Evelina, Petraitytė, Gunda, Mikštienė, Violeta, Rančelis, Tautvydas, Maldžienė, Živilė, Morkūnienė, Aušra, Byčkova, Jekaterina, Utkus, Algirdas, Kučinskas, Vaidutis, Preikšaitienė, Eglė
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2019
Gaiak:
Case Report
Sarrera elektronikoa: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
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