A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency

BACKGROUND: The CYP11A1 gene encodes the cytochrome P450 side‐chain cleavage enzyme, which is essential for steroid formation. Recessive variants in this gene can lead to impairment of sexual differentiation caused by a complete or partial loss of steroid hormone production. The phenotypic spectrum...

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Bibliographische Detailangaben
Veröffentlicht in:Mol Genet Genomic Med
Hauptverfasser: Lara‐Velazquez, Montserrat, Perdomo‐Pantoja, Alexander, Blackburn, Patrick R., Gass, Jennifer M., Caulfield, Thomas R., Atwal, Paldeep S.
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2017
Schlagworte:
Clinical Reports
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5702577/
https://ncbi.nlm.nih.gov/pubmed/29178636
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.322
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