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Article

Alström Syndrome: Mutation Spectrum of ALMS1.

Human mutation - 1 Jul 2015

Marshall Jan D, Muller Jean, Collin Gayle B, Milan Gabriella, Kingsmore Stephen F, Dinwiddie Darrell, Farrow Emily G, Miller Neil A, Favaretto Francesca, Maffei Pietro, Dollfus Hélène, Vettor Roberto, Naggert Jürgen K

Abstract excerpt

Alström Syndrome (ALMS), a recessive, monogenic ciliopathy caused by mutations in ALMS1, is typically characterized by multisystem involvement including early cone-rod retinal dystrophy and blindness, hearing loss, childhood obesity, type 2 diabetes mellitus, cardiomyopathy, fibrosis, and multipl...

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Source

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Identifiers

PMID: 25846608
DOI: 10.1002/humu.22796
PMCID: PMC4475486

Genes

ALMS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25846608-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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