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

Publikováno v: Clinical Case Reports, Vol 9, Iss 5, Pp n/a-n/a (2021)

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.

Externí odkaz: https://doaj.org/article/fd18fa244eae47f499079de1968b87b8

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Hypomyelination and Congenital Cataract

Autor: Wolf NI; Department of Child Neurology, Emma Children's Hospital, Amsterdam Leukodystrophy Center, Amsterdam University Medical Centers; Amsterdam Neuroscience, Vrije Universiteit, Amsterdam, the Netherlands, Biancheri R; Dubowitz Neuromuscular Service, Department of Neuroscience, Great Ormond Street Hospital, London, United Kingdom, Zara F; Department of Neuroscience, G Gaslini Pediatric Institute and University of Genova, Genova, Italy, Bruno C; Department of Neuroscience, G Gaslini Pediatric Institute and University of Genova, Genova, Italy, Gazzerro E; Department of Neuroscience, G Gaslini Pediatric Institute and University of Genova, Genova, Italy, Rossi A; Department of Neuroradiology, G Gaslini Pediatric Institute and University of Genova, Genova, Italy, van der Knaap MS; Professor, Department of Child Neurology, Vrije Universiteit Medical Center, Amsterdam, the Netherlands, Minetti C; Department of Neuroscience, G Gaslini Pediatric Institute and University of Genova, Genova, Italy

Publikováno v: 1993.