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Article

Genotype and phenotype in patients with ACAN gene variants: Three cases and literature review.

Molecular genetics & genomic medicine - 1 Apr 2024

Tang Wei, Wu Ke-Mi, Zhou Qiong, Tang Yan-Fei, Fu Jun-Fen, Dong Guan-Ping, Zou Chao-Chun

Abstract excerpt

OBJECTIVE: To characterize the phenotype spectrum, diagnosis, and response to growth-promoting therapy in patients with ACAN variants causing familial short stature. METHODS: Three families with ACAN variants causing short stature were reported. Similar cases in the literature were summarized, and the genotype and phenotype were analyzed. RESULTS: Three novel heterozygous variants, c.757+1G>A, (splicing),...

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Identifiers

PMID: 38613222
DOI: 10.1002/mgg3.2439
PMCID: PMC11015147

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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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