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Article

Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities.

The Journal of investigative dermatology - 1 Sept 2006

Fassihi Hiva, Lu Liu, Wessagowit Vesarat, Ozoemena Linda C, Jones Catherine A, Dopping-Hepenstal Patricia J C, Foster Lesley, Atherton David J, Mellerio Jemima E, McGrath John A

Abstract excerpt

The mechanobullous disease Hallopeau-Siemens recessive dystrophic epidermolysis bullosa (HS-RDEB) results from mutations in the type VII collagen gene (COL7A1) on chromosome 3p21.31. Typically, there are frameshift, splice site, or nonsense mutations on both alleles. In this report, we describe a patient with HS-RDEB, who was homozygous for a new frameshift mutation, 345insG, in exon 3 of COL7A1. However,...

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Share to Chromosomes, Human, Pair 3
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16710310
DOI: 10.1038/sj.jid.5700348

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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