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Article

Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jul 2015

Quintos Jose Bernardo, Guo Michael H, Dauber Andrew

Abstract excerpt

BACKGROUND: Recently, whole exome sequencing identified heterozygous defects in the aggrecan (ACAN) gene in three families with short stature and advanced bone age. OBJECTIVE: We report a novel frameshift mutation in ACAN in a family with dominantly inherited short stature, advanced bone age, and premature growth cessation. This is the first case of targeted sequencing of ACAN in this phenotype and confirms that...

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Source

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Identifiers

PMID: 25741789
DOI: 10.1515/jpem-2014-0450
PMCID: PMC4501863

Genes

ACAN
SDS

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.

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