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

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

Troncoso, Mónica; Balut, Fernanda; Witting, Scarlet; Rubilar, Carla; Carrera, Jorge; Cartes, Fabiola; Herrera, Luisa.

Afiliação

Troncoso M; Hospital Clinico San Borja Arriaran Pediatric Neurology. Pediatric Department Central Campus Facultad de Medicina Universidad de Chile Santiago Chile.
Balut F; Hospital Clinico San Borja Arriaran Pediatric Neurology. Pediatric Department Central Campus Facultad de Medicina Universidad de Chile Santiago Chile.
Witting S; Hospital Clinico San Borja Arriaran Pediatric Neurology. Pediatric Department Central Campus Facultad de Medicina Universidad de Chile Santiago Chile.
Rubilar C; Hospital Clinico San Borja Arriaran Pediatric Neurology. Pediatric Department Central Campus Facultad de Medicina Universidad de Chile Santiago Chile.
Carrera J; Hospital de Puerto Montt Santiago Chile.
Cartes F; Human Genetics Program Institute of Biomedical Sciences Facultad de Medicina Universidad de Chile Santiago Chile.
Herrera L; Human Genetics Program Institute of Biomedical Sciences Facultad de Medicina Universidad de Chile Santiago Chile.

Clin Case Rep ; 9(5): e04171, 2021 May.

Article em En | MEDLINE | ID: mdl-34026180