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Article

Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.

Molecular vision - 1 Jan 2012

Piñeiro-Gallego Teresa, Cortón Marta, Ayuso Carmen, Baiget Montserrat, Valverde Diana

Abstract excerpt

PURPOSE: To describe the clinical and genetic findings in 11 Spanish patients with confirmed (n=5) or suspected (n=6) Alström syndrome (AS). METHODS: Patients underwent clinical evaluation, and were screened for variations in Alström syndrome 1 gene (ALMS1) using a genotyping microarray from Asper Ophthalmics and by direct sequencing of coding exons 8, 10, and 16 of ALMS1. Furthermore, we analyzed the presence of...

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Identifiers

PMID: 22876109
PMCID: PMC3413414

Genes

ALMS1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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