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Article

ACAN biallelic variants in a girl with severe idiopathic short stature.

Journal of human genetics - 1 Aug 2022

Masunaga Yohei, Ohkubo Yumiko, Nishimura Gen, Ueno Taizo, Fujisawa Yasuko, Fukami Maki, Saitsu Hirotomo, Ogata Tsutomu

Abstract excerpt

Although ACAN heterozygous loss-of-function variants often cause idiopathic short stature (ISS) phenotype, there is no report describing ISS phenotype caused by ACAN biallelic loss-of-function variants. We encountered a 4 1/12-year-old Japanese girl with a height of 80.4 cm (-5.2 SD), a weight of 11.4 kg (-1.9 SD), a head circumference of 48.7 cm (-0.6 SD), and an arm span/height ratio of 1.0 (+1.1 SD). Endocrine...

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Identifiers

PMID: 35314765
DOI: 10.1038/s10038-022-01030-3

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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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