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

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.

Detalles Bibliográficos
Autores principales: Troncoso, Mónica, Balut, Fernanda, Witting, Scarlet, Rubilar, Carla, Carrera, Jorge, Cartes, Fabiola, Herrera, Luisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8133089/
https://www.ncbi.nlm.nih.gov/pubmed/34026180
http://dx.doi.org/10.1002/ccr3.4171
Descripción
Sumario: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.

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