A three-year clinical investigation of a Chinese child with craniometaphyseal dysplasia caused by a mutated ANKH gene

BACKGROUND: Craniometaphyseal dysplasia (CMD) is a rare genetic disorder. Autosomal dominant CMD (AD-CMD) is caused by mutations in the ANKH gene. Affected individuals typically have distinctive facial features including progressive thickening of the craniofacial bones. Treatment for AD-CMD primaril...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:World J Clin Cases
Prif Awduron: Wu, Jia-Li, Li, Xiao-Li, Chen, Shu-Mei, Lan, Xiao-Ping, Chen, Jin-Jin, Li, Xiao-Yan, Wang, Wei
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Baishideng Publishing Group Inc 2021
Pynciau:
Case Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7953411/
https://ncbi.nlm.nih.gov/pubmed/33748234
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12998/wjcc.v9.i8.1853
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