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Article

Long-term clinical follow-up and molecular testing for diagnosis of the first Tunisian family with Alström syndrome.

European journal of medical genetics - 1 Sept 2016

Chakroun Amine, Ben Said Mariem, Ennouri Amine, Achour Imen, Mnif Mouna, Abid Mohamed, Ghorbel Abdelmonem, Marshall Jan D, Naggert Jürgen K, Masmoudi Saber

Abstract excerpt

Alström syndrome is a clinically complex disorder characterized by progressive degeneration of sensory functions, resulting in visual and audiological impairment as well as metabolic disturbances. It is caused by recessively inherited mutations in the ALMS1 gene, which codes for a centrosomal/basal body protein. The purpose of this study was to investigate the genetic and clinical features of two Tunisian...

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Identifiers

PMID: 27523285
DOI: 10.1016/j.ejmg.2016.08.004
PMCID: PMC5335873

Genes

ALMS1

Provenance

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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