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....

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Detalles Bibliográficos
Autores principales: Shen, Ren, Feng, Jian-Hua, Yang, Shan-Pu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2023
Materias:
Case Report
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

Internet

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

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