Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Homozygous and heterozygous expression of a novel mutation of the acid-labile subunit.

European journal of endocrinology - 1 Aug 2008

van Duyvenvoorde H A, Kempers M J E, Twickler Th B, van Doorn J, Gerver W J, Noordam C, Losekoot M, Karperien M, Wit J M, Hermus A R M M

Abstract excerpt

CONTEXT: Acid-labile subunit (ALS) deficiency due to homozygous inactivation of the ALS gene (IGFALS) is associated with moderate short stature, and in few cases pubertal delay. The clinical expression of heterozygosity is unknown. OBJECTIVE: To investigate the clinical, laboratory, and radiological features of homozygous and heterozygous carriers of a novel mutation in the ALS gene in comparison with...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Carrier Proteins
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dwarfism

Share to Family

Share to Glycoproteins

Share to Heterozygote

Share to Homozygote

Share to Microcephaly

Source

Identifiers

PMID: 18463107
DOI: 10.1530/EJE-08-0081

Genes

IGFALS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Homozygous and heterozygous expression of a novel mutation of the acid-labile subunit.PMID 18463107Read ↗

Clinical features of a new acid-labile subunit (IGFALS) heterozygous mutation: anthropometric and biochemical characterization and response to growth hormone administration.Semantic proximity Read ↗

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

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

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

Heterozygous IGFALS gene variants in idiopathic short stature and normal children: impact on height and the IGF system.Semantic proximity Read ↗

Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia.Semantic proximity Read ↗

Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins.Semantic proximity Read ↗

[Clinical phenotype and genetic analysis of a child with Acid-labile subunit deficiency due to variant of IGFALS gene].Semantic proximity Read ↗

Characterization of four Latin American families confirms previous findings and reveals novel features of acid-labile subunit deficiency.Semantic proximity Read ↗

Novel acid-labile subunit ( IGFALS ) mutation p.T145K (c.434C>A) in a patient with ALS deficiency, normal stature and immunological dysfunction.Semantic proximity Read ↗

Assessment of pathogenicity of natural IGFALS gene variants by in silico bioinformatics tools and in vitro functional studies.Semantic proximity Read ↗

Acid-labile subunit deficiency: phenotypic similarities and differences between human and mouse.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.