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Article

Clinical phenotype and musculoskeletal characteristics of patients with aggrecan deficiency.

American journal of medical genetics. Part A - 1 Apr 2022

Alexandrou Eirene, Dauber Andrew, Tyzinski Leah, Hwa Vivian, Andrew Melissa, Kim Hee, Elangovan Stacey, Gubanich Paul, Taylor-Haas Jeffery A, Paterno Mark, Backeljauw Philippe

Abstract excerpt

Aggrecan is a proteoglycan within the physeal and articular cartilage. Aggrecan deficiency, due to heterozygous mutations in the ACAN gene, causes dominantly inherited short stature and, in many patients, early-onset osteoarthritis and degenerative disc disease. We aimed to further characterize this phenotypic spectrum with an emphasis on musculoskeletal health. Twenty-two individuals from nine families were...

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Identifiers

PMID: 35001504
DOI: 10.1002/ajmg.a.62639

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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