Skeletal abnormalities caused by a Connexin43R239Q mutation in a mouse model for autosomal recessive...
Skeletal abnormalities caused by a Connexin43R239Q mutation in a mouse model for autosomal recessive craniometaphyseal dysplasia
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Publisher
London: Springer Nature B.V
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Language
English
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Publisher
London: Springer Nature B.V
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Contents
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. The pathogenesis of CMD is not fully understood. Treatmen...
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Full title
Skeletal abnormalities caused by a Connexin43R239Q mutation in a mouse model for autosomal recessive craniometaphyseal dysplasia
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TN_cdi_proquest_miscellaneous_3160923974
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_3160923974
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ISSN
2095-4700
E-ISSN
2095-6231
DOI
10.1038/s41413-024-00383-z
