載入...

Compound heterozygous variants in POR gene identified by whole‐exome sequencing in a Chinese pedigree with cytochrome P450 oxidoreductase deficiency

IMPORTANCE: Cytochrome P450 oxidoreductase deficiency (PORD) is a rare disease exhibiting a variety of clinical manifestations. This condition specifically leads to disordered steroidogenesis, which can affect the development of the reproductive system, skeleton, and other parts of the body. The sev...

全面介紹

Na minha lista:
書目詳細資料
發表在:Pediatr Investig
Main Authors: Hao, Chanjuan, Guo, Jun, Guo, Ruolan, Qi, Zhan, Li, Wei, Ni, Xin
格式: Artigo
語言:Inglês
出版: John Wiley and Sons Inc. 2018
主題:
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7331414/
https://ncbi.nlm.nih.gov/pubmed/32851239
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ped4.12035
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!