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Skeletal abnormalities caused by a Connexin43_(R239Q)mutation in a mouse model for autosomal recessive craniometaphyseal dysplasia
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作者 Yasuyuki Fujii Iichiro Okabe +7 位作者 Ayano Hatori Shyam Kishor Sah Jitendra Kanaujiya Melanie Fisher Rachael Norris Mark Terasaki Ernst J.Reichenberger I-Ping Chen 《Bone Research》 2025年第2期370-383,共14页
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 lo... 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. 展开更多
关键词 connexin r q mutation mouse model hyperostosis craniofacial bones metaphyseal flaring craniometaphyseal dysplasia skeletal abnormalities autosomal recessive craniotubular disorderoccurs
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