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.
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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