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Acromicric dysplasia caused by a mutation of fibrillin 1 in a family: A case report
BACKGROUND: Acromicric dysplasia (AD) is a rare skeletal dysplasia. Its incidence is < 1/1000000, and only approximately 60 cases are reported worldwide. It is a disease characterized by severe short stature, short hands and feet, facial abnormalities, normal intelligence, and bone abnormalities....
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Baishideng Publishing Group Inc
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10044957/ https://www.ncbi.nlm.nih.gov/pubmed/36998968 http://dx.doi.org/10.12998/wjcc.v11.i9.2036 |