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Article

Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations.

The Journal of clinical endocrinology and metabolism - 1 Nov 2007

Domené Horacio M, Scaglia Paula A, Lteif Aida, Mahmud Farid H, Kirmani Salman, Frystyk Jan, Bedecarrás Patricia, Gutiérrez Mariana, Jasper Héctor G

Abstract excerpt

CONTEXT: IGF-I deficiency may result from impairment of GH secretion or action, or from defects in IGF-I synthesis, transport, or action. Complete deficiency of the acid-labile subunit (ALS), previously described in two male patients, the only known inherited alteration in IGF-I transport, is characterized by severe circulating IGF-I and IGF binding protein (IGFBP)-3 deficiency with only mild growth retardation....

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Source

Identifiers

PMID: 17726072
DOI: 10.1210/jc.2007-1152

Genes

IGFALS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations.PMID 17726072Read ↗

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