Hypomyelination and Congenital Cataract: Identification of a Novel likely pathogenic c.414+1G>A in FAM126A gene Variant

Autor: Mónica Troncoso, Fernanda Balut, Scarlet Witting, Carla Rubilar, Jorge Carrera, Fabiola Cartes, Luisa Herrera
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Clinical Case Reports, Vol 9, Iss 5, Pp n/a-n/a (2021)
Druh dokumentu: article
ISSN: 2050-0904
DOI: 10.1002/ccr3.4171
Popis: Abstract It is key to expand the differential diagnosis and consider possible genetic etiologies on a patient with congenital cataracts associated with clinical features, such as leukodystrophy or polyneuropathy.
Databáze: Directory of Open Access Journals