Cargando…
A uniparental isodisomy event introducing homozygous pathogenic variants drives a multisystem metabolic disorder
Uniparental isodisomy (UPiD) is a rare genetic event that occurs when two identical copies of a single chromosome are inherited from one parent. Here we report a patient with a severe, multisystem metabolic disorder who inherited two copies of Chromosome 12 from her father. He was a heterozygous car...
| Autores principales: | , , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cold Spring Harbor Laboratory Press
2019
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913148/ https://www.ncbi.nlm.nih.gov/pubmed/31653659 http://dx.doi.org/10.1101/mcs.a004457 |