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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Detalles Bibliográficos
Autores principales: Siavrienė, Evelina, Petraitytė, Gunda, Mikštienė, Violeta, Rančelis, Tautvydas, Maldžienė, Živilė, Morkūnienė, Aušra, Byčkova, Jekaterina, Utkus, Algirdas, Kučinskas, Vaidutis, Preikšaitienė, Eglė
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
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

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