Segmental Uniparental Isodisomy Causing an "Inside-to-Outside" Limb-Girdle Muscular Dystrophy Due to a Homozygous Mutation in POGLUT1.
Sign Up to like & getrecommendations! Published in 2023 at "JAMA neurology"
DOI: 10.1001/jamaneurol.2023.1286
Abstract: This case report describes segmental uniparental isodisomy causing an “inside-to-outside” limb-girdle muscular dystrophy due to a homozygous mutation in POGLUT1. read more here.
Keywords: inside outside; causing inside; segmental uniparental; isodisomy causing ... See more keywords
Prenatal diagnosis of complete paternal uniparental isodisomy for chromosome 3: a case report
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DOI: 10.1186/s13039-021-00569-8
Abstract: Background Uniparental disomy (UPD) is defined as an inheritance of two chromosomes from only one of the parents with no representative copy from the other. Paternal-origin UPD of chromosome 3 is a very rare condition,… read more here.
Keywords: paternal uniparental; case; prenatal diagnosis; complete paternal ... See more keywords
Hereditary Sensory and Autonomic Neuropathy 2B Caused by a Novel RETREG1 Mutation (c.765dupT) and Paternal Uniparental Isodisomy of Chromosome 5
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DOI: 10.3389/fgene.2019.01085
Abstract: Hereditary sensory and autonomic neuropathy (HSAN) 2B is a rare disease and has been reported mostly in offspring of consanguineous parents. Here we report the case of a patient born to non-consanguineous parents who was… read more here.
Keywords: hereditary sensory; uniparental isodisomy; mutation; isodisomy chromosome ... See more keywords
A rare case of uniparental isodisomy of chromosome 7 without phenotypic anomalies.
Sign Up to like & getrecommendations! Published in 2022 at "Ginekologia polska"
DOI: 10.5603/gp.a2022.0045
Abstract: Uniparental disomy (UPD) is a well-known epigenomic anomaly with both copies of a homologous pair of chromosomes (or part thereof) inherited from the same parent [1]. Unlike numerical or structural chromosomal aberrations, UPD has no… read more here.
Keywords: isodisomy chromosome; rare case; chromosome; case uniparental ... See more keywords