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Article

Rare case of Alstrom syndrome with empty sella and interfamilial presence of Bardet-Biedl phenotype.

Journal of medicine and life - 1 Jan 2000

Catrinoiu D, Mihai C M, Tuta L, Stoicescu R, Simpetru A

Abstract excerpt

UNLABELLED: Alstrom syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, hearing impairment/loss, obesity, diabetes, hepatic and renal dysfunction. Since the first descriptio...

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Identifiers

PMID: 20108498
PMCID: PMC5051489

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20108498-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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