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Article

Indian patients with CHST3-related chondrodysplasia with congenital joint dislocations.

American journal of medical genetics. Part A - 1 Mar 2024

Singh Swati, Jacob Prince, Patil Siddaramappa J, Muranjan Mamta, Shah Hitesh, Girisha Katta M, Bhavani Gandham SriLakshmi

Abstract excerpt

CHST3-related chondrodysplasia with congenital joint dislocations (CDCJD, #MIM 143095), is a rare genetic skeletal disorder caused by biallelic loss of function variants in CHST3. CHST3 is critical for the sulfation of chondroitin sulfate. This study delineates the clinical presentation of nine individuals featuring the key symptoms of CDCJD; congenital joint (knee and elbow) dislocations, short trunk short...

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Identifiers

PMID: 37876363
DOI: 10.1002/ajmg.a.63422

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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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