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...

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Detalles Bibliográficos
Autores principales: Hao, Chanjuan, Guo, Jun, Guo, Ruolan, Qi, Zhan, Li, Wei, Ni, Xin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7331414/
https://www.ncbi.nlm.nih.gov/pubmed/32851239
http://dx.doi.org/10.1002/ped4.12035

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7331414/
https://www.ncbi.nlm.nih.gov/pubmed/32851239
http://dx.doi.org/10.1002/ped4.12035

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