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Article

Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasia.

European journal of human genetics : EJHG - 1 Jan 2025

Singh Swati, Danda Sumita, Sharma Neetu, Shah Hitesh, Madhuri Vrisha, Mir Tariq Altaf, Padala Nadia Zipporah, Medishetti Raghavender, Ekbote Alka, Bhavani Gandham SriLakshmi, Sevilimedu Aarti, Girisha Katta M

Abstract excerpt

Kyphomelic dysplasia is a rare heterogenous group of skeletal dysplasia, characterized by bowing of the limbs, severely affecting femora with distinct facial features. Despite its first description nearly four decades ago, the precise molecular basis of this condition remained elusive until the recent discovery of de novo variants in the KIF5B-related kyphomelic dysplasia. We ascertained two unrelated...

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Identifiers

PMID: 39506047
DOI: 10.1038/s41431-024-01725-5
PMCID: PMC11711675

Genes

CCN2
KIF5B

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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