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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Baishideng Publishing Group Inc
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7953411/ https://www.ncbi.nlm.nih.gov/pubmed/33748234 http://dx.doi.org/10.12998/wjcc.v9.i8.1853 |