Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium.

doi:10.1210/jc.2010-0489

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Article

Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium.

The Journal of clinical endocrinology and metabolism - 1 Sept 2010

Fofanova-Gambetti Olga V, Hwa Vivian, Wit Jan M, Domene Horacio M, Argente Jesús, Bang Peter, Högler Wolfgang, Kirsch Susan, Pihoker Catherine, Chiu Harvey K, Cohen Laurie, Jacobsen Christina, Jasper Hector G, Haeusler Gabriele, Campos-Barros Angel, Gallego-Gómez Elena, Gracia-Bouthelier Ricardo, van Duyvenvoorde Hermine A, Pozo Jesús, Rosenfeld Ron G

Abstract excerpt

CONTEXT: To date, 16 IGFALS mutations in 21 patients with acid-labile subunit (ALS) deficiency have been reported. The impact of heterozygosity for IGFALS mutations on growth is unknown. OBJECTIVE: The study evaluates the impact of heterozygous expression of IGFALS mutations on phenotype based on data collected by the International ALS Consortium. SUBJECTS/METHODS: Patient information was derived from the IGFALS...

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PMID: 20591980
DOI: 10.1210/jc.2010-0489

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IGFALS
SDS

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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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