Antley-Bixler syndrome arising from compound heterozygotes in the P450 oxidoreductase gene: a case report

Antley-Bixler syndrome (ABS) arising from P450 oxidoreductase deficiency (PORD) is a rare, distinct craniosynostosis syndrome, accompanied by ambiguous genitalia and impaired steroidogenesis. It is reported that this disorder is caused by mutations in the P450 oxidoreductase (POR; OMIM #124015) gene...

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Detalles Bibliográficos
Autores principales: Li, Haibo, Zhao, Aman, Xie, Min, Chen, Linqi, Wu, Haiying, Shen, Yiping, Wang, Hongying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8753478/
https://www.ncbi.nlm.nih.gov/pubmed/35070845
http://dx.doi.org/10.21037/tp-21-499

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8753478/
https://www.ncbi.nlm.nih.gov/pubmed/35070845
http://dx.doi.org/10.21037/tp-21-499

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