Cargando…
Two novel Warburg micro syndrome 1 cases caused by pathogenic variants in RAB3GAP1
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 de...
Autores principales: | , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8548584/ https://www.ncbi.nlm.nih.gov/pubmed/34702808 http://dx.doi.org/10.1038/s41439-021-00171-9 |