Prenatal findings in a fetus with X-linked recessive type of chondrodysplasia punctata (CDPX1): a case report with novel mutation

BACKGROUND: X-linked recessive chondrodysplasia punctate (CDPX1) is a rare congenital disorder of bone and cartilage development, caused by a mutation in the arylsulfatase E (ARSE) gene located on chromosome Xp22.3. Although most of the affected men had mild symptoms, some had more severe symptoms,...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:BMC Pediatr
Egile Nagusiak: He, Guannan, Yin, Yan, Zhao, Jing, Wang, Xueyan, Yang, Jiaxiang, Chen, Xi, Ding, Li, Bai, Yan
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2019
Gaiak:
Case Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6647267/
https://ncbi.nlm.nih.gov/pubmed/31337364
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-019-1629-x
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