Article

Biallelic Variants in<i>CCN2</i>Underlie an Autosomal Recessive Kyphomelic Dysplasia

2024-04-06

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, 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 consanguineous f...

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Literature Corpus work: d1b610fe-5a9b-5390-8e1a-1a92c3e8f4a3
DOI: 10.1101/2024.04.05.24305189

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