A carregar...
Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children
BACKGROUND: Antley-Bixler syndrome (ABS) caused by P450 oxidoreductase deficiency (PORD) is a congenital adrenal hyperplasia with skeletal malformations and disordered sex development in both sexes. There have been no reports of ABS caused by PORD in Chinese children. METHODS: We described the clini...
Na minha lista:
| Publicado no: | Orphanet J Rare Dis |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2019
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6937861/ https://ncbi.nlm.nih.gov/pubmed/31888681 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1283-2 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|