X-linked dominant chondrodysplasia punctata with severe phenotype in a female fetus: A case report

RATIONALE: X-linked dominant chondrodysplasia punctata type 2 (CDPX2) is a condition involving facial, skin, and skeletal dysplasia as a result of a mutation in emopamil binding protein (EBP). It usually presents with mild symptoms in female patients but is fatal in male patients. PATIENT CONCERNS:...

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Detalles Bibliográficos
Autores principales: Liu, Yan, Wang, Li, Xu, Bin, Yang, Yike, Shan, Dan, Wu, Qingqing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6344186/
https://www.ncbi.nlm.nih.gov/pubmed/30608402
http://dx.doi.org/10.1097/MD.0000000000013850

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6344186/
https://www.ncbi.nlm.nih.gov/pubmed/30608402
http://dx.doi.org/10.1097/MD.0000000000013850

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