Maternal UPD of chromosome 7 in a patient with Silver‐Russell syndrome and Pendred syndrome
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DOI: 10.1002/jcla.23407
Abstract: Silver‐Russell syndrome (SRS) is a heterogeneous imprinting disorder featuring severe intrauterine and postnatal growth retardation and dysmorphic features. Pendred syndrome (PDS) is an autosomal recessive disorder caused by mutations in the SLC26A4 gene characterized by… read more here.
Keywords: pendred syndrome; russell syndrome; silver russell; upd chromosome ... See more keywords
Transcriptome analysis of a ring chromosome 20 patient cohort
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DOI: 10.1111/epi.16766
Abstract: Ring chromosomes occur when the ends of normally rod‐shaped chromosomes fuse. In ring chromosome 20 (ring 20), intellectual disability and epilepsy are usually present, even if there is no deleted coding material; the mechanism by… read more here.
Keywords: transcriptome analysis; ring chromosome; analysis; analysis ring ... See more keywords