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Article

A new homozygous nonsense mutation in<i>LAMA3A</i>underlying laryngo-onycho-cutaneous syndrome

20 Jul 2013

Abstract excerpt

Laryngo-onycho-cutaneous (LOC) syndrome is a subtype of autosomal recessive junctional epidermolysis bullosa in which there is prominent skin and mucosal granulation tissue that can lead to delayed wound healing, laryngeal obstruction and blindness. Thus far, all cases are of Punjabi ancestry and have been shown to result from a founder mutation in the LAMA3 gene, notably involving a single nucleotide insertion...

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PMID: 23869449
DOI: 10.1111/bjd.12522

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A new homozygous nonsense mutation in<i>LAMA3A</i>underlying laryngo-onycho-cutaneous syndromePMID 23869449Read ↗

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Atypical presentation of laryngo-onycho-cutaneous syndrome resulting from novel mutations in LAMA3A.Semantic proximity Read ↗

An unusual N-terminal deletion of the laminin 3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndromeSemantic proximity Read ↗

Natural history and clinical outcome of junctional epidermolysis bullosa generalized intermediate due to a LAMA3 mutation.Semantic proximity Read ↗

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