Article

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

2024-02-06

Abstract excerpt

<title>Abstract</title> <p>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 flaring metaphyses of long bones. Many patients with CMD suffer from neurological symptoms. To date, the pathogenesis of CMD is not fully understood. Treatment is limited to decompression s...

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Literature Corpus work: bc8ef2ee-d672-50eb-b025-b0b52aec4e0f
DOI: 10.21203/rs.3.rs-3906170/v1

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