In:
Human Genome Variation, Springer Science and Business Media LLC, Vol. 8, No. 1 ( 2021-10-26)
Kurzfassung:
In this study, we detected a novel pathogenic variant and a previously reported variant in RAB3GAP1 by whole-exome sequencing (NM_001172435.2: c.1552C 〉 T, p.Gln518*; c.1471C 〉 T, p.Arg491*). The first patient is a 3-year-old girl who presented with bilateral congenital cataracts, developmental delay, abnormal craniofacial features, drug-resistant constipation, and corpus callosum hypoplasia. The proband of the second family is a 13-year-old boy who suffers from developmental delay, quadriplegia, intellectual disability, abnormal craniofacial features, and corpus callosum hypoplasia.
Materialart:
Online-Ressource
ISSN:
2054-345X
DOI:
10.1038/s41439-021-00171-9
Sprache:
Englisch
Verlag:
Springer Science and Business Media LLC
Publikationsdatum:
2021
ZDB Id:
2863697-1
