Skeletal abnormalities caused by a Connexin43R239Q mutation in a mouse model for autosomal recessive craniometaphyseal dysplasia

Skeletal abnormalities caused by a Connexin43R239Q mutation in a mouse model for autosomal recessive craniometaphyseal dysplasia

Abstract Craniometaphyseal dysplasia (CMD), a rare craniotubular disorder, occurs in an autosomal dominant (AD) or autosomal recessive (AR) form. CMD is characterized by hyperostosis of craniofacial bones and metaphyseal flaring of long bones. Many patients with CMD suffer from neurological symptoms...

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Main Authors: Yasuyuki Fujii, Iichiro Okabe, Ayano Hatori, Shyam Kishor Sah, Jitendra Kanaujiya, Melanie Fisher, Rachael Norris, Mark Terasaki, Ernst J. Reichenberger, I-Ping Chen
Format: Article
Language:English
Published: Nature Publishing Group 2025-01-01
Series:Bone Research
Online Access:https://doi.org/10.1038/s41413-024-00383-z
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