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Article

ACAN-related disorder, antenatal presentation and phenotypic variability: a case series.

Journal of medical genetics - 25 Jun 2026

Pattani Nikhil, Page Anna, Barber Joy L, Del Rey Jimenez Juan Carlos, Alsters Suzanne, Albanese Assunta, Mansour Sahar

Abstract excerpt

BACKGROUND: Pathogenic ACAN variants ('aggrecanopathies') are increasingly recognised as a non-syndromic cause of skeletal dysplasias and short stature. Unlike many other aetiologies, ACAN-related disorder is reportedly associated with advanced bone age due to early epiphysial fusion, although presentation can vary. This study aimed to further characterise skeletal findings in paediatric and adult patients....

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Source

Identifiers

PMID: 41956799
DOI: 10.1136/jmg-2025-111354

Genes

ACAN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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ACAN-related disorder, antenatal presentation and phenotypic variability: a case series.PMID 41956799Read ↗

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