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...

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Veröffentlicht in:Orphanet J Rare Dis
Hauptverfasser: Fan, Lijun, Ren, Xiaoya, Song, Yanning, Su, Chang, Fu, Junfen, Gong, Chunxiu
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2019
Schlagworte:
Research
Online Zugang: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
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