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...

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Detalhes bibliográficos
Publicado no:Cold Spring Harb Mol Case Stud
Main Authors: Daniels, Eileen G., Alders, Marielle, Lezzerini, Marco, McDonald, Andrew, Peters, Marjolein, Kuijpers, Taco W., Lakeman, Phillis, Houtkooper, Riekelt H., MacInnes, Alyson W.
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2019
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6913148/
https://ncbi.nlm.nih.gov/pubmed/31653659
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a004457
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