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Article

The unique combination of dermatological and ocular phenotypes in Alström syndrome: severe presentation, early onset and two novel ALMS1 mutations.

The British journal of dermatology - 1 Apr 2011

Kocova M, Sukarova-Angelovska E, Kacarska R, Maffei P, Milan G, Marshall J D

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Identifiers

PMID: 21128906
DOI: 10.1111/j.1365-2133.2010.10157.x
PMCID: PMC3062681

Genes

ALMS1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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The unique combination of dermatological and ocular phenotypes in Alström syndrome: severe presentation, early onset and two novel ALMS1 mutations.PMID 21128906Read ↗

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Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome.Semantic proximity Read ↗

A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants.Semantic proximity Read ↗

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Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria.Semantic proximity Read ↗

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