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Article

Clinical and biochemical characteristics and bone mineral density of homozygous, compound heterozygous and heterozygous carriers of three novel IGFALS mutations.

European journal of endocrinology - 1 Jun 2017

Işık Emregül, Haliloglu Belma, van Doorn Jaap, Demirbilek Hüseyin, Scheltinga Sitha A, Losekoot Monique, Wit Jan M

Abstract excerpt

OBJECTIVE: Acid-labile subunit (ALS) deficiency (ACLSD), caused by homozygous or compound heterozygous IGFALS mutations, is associated with moderate short stature, delayed puberty, low serum IGF-I and ALS and extremely low serum IGFBP-3. Its effect on birth weight, head circumference, bone mineral density (BMD), serum IGF-II and IGFBP-2 is uncertain, as well as the phenotype of heterozygous carriers of IGFALS...

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Source

Identifiers

PMID: 28249955
DOI: 10.1530/EJE-16-0999

Genes

SDS
IGFALS

Variants

Provenance

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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Clinical and biochemical characteristics and bone mineral density of homozygous, compound heterozygous and heterozygous carriers of three novel IGFALS mutations.PMID 28249955Read ↗

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