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Aromatase Deficiency due to a Novel Mutation in CYP19A1 Gene

Aromatase deficiency is a rare autosomal recessive genetic disorder with an unknown incidence. Aromatase converts androgens into estrogen in the gonadal and extra-gonadal tissues. Aromatase deficiency causes ambiguous genitalia in the female fetus and maternal virilization (hirsutism, acne, cliterom...

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Bibliografiske detaljer
Udgivet i:J Clin Res Pediatr Endocrinol
Main Authors: Unal, Edip, Yıldırım, Ruken, Taş, Funda Feryal, Demir, Vasfiye, Onay, Hüseyin, Haspolat, Yusuf Kenan
Format: Artigo
Sprog:Inglês
Udgivet: Galenos Publishing 2018
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6280327/
https://ncbi.nlm.nih.gov/pubmed/29553041
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.0011
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