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Article

A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient.

European journal of human genetics : EJHG - 1 Jan 2014

Sanyoura May, Woudstra Cédric, Halaby George, Baz Patrick, Senée Valérie, Guillausseau Pierre-Jean, Zalloua Pierre, Julier Cécile

Abstract excerpt

Insulin-dependent juvenile-onset diabetes may occur in the context of rare syndromic presentations suggesting monogenic inheritance rather than common multifactorial autoimmune type 1 diabetes. Here, we report the case of a Lebanese patient diagnosed with juvenile-onset insulin-dependent diabetes...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23652376
DOI: 10.1038/ejhg.2013.87
PMCID: PMC3865412

Genes

ALMS1
WFS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23652376-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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