Sho mi da genes

11 March 2018

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HSD3B2 Gene
http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD3B2

HSD3B1 Gene
http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD3B1

CYP17A1 gene
https://ghr.nlm.nih.gov/gene/CYP17A1

CYP11A1 Gene
http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP11A1#diseases

17-BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY
https://omim.org/entry/264300

17-beta hydroxysteroid dehydrogenase 3 deficiency
https://ghr.nlm.nih.gov/condition/17-beta-hydroxysteroid-dehydrogenase-3-deficiency

Congenital adrenal hyperplasia due to point mutations in the type II 3β–hydroxysteroid dehydrogenase gene
https://www.nature.com/articles/ng0792-239

CYP17A1 cytochrome P450 family 17 subfamily A member 1 [ Homo sapiens (human) ]
https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=1586

Phenotypic variations in lipoid congenital adrenal hyperplasia.
https://www.ncbi.nlm.nih.gov/pubmed/16639391

Homozygous Mutation of P450 Side-Chain Cleavage Enzyme Gene (CYP11A1) in 46, XY Patient with Adrenal Insufficiency, Complete Sex Reversal, and Agenesis of Corpus Callosum
https://academic.oup.com/jcem/article/91/8/2821/2656243

Severe Combined Adrenal and Gonadal Deficiency Caused by Novel Mutations in the Cholesterol Side Chain Cleavage Enzyme, P450scc
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2266942/

Human models of aromatase deficiency
https://www.sciencedirect.com/science/article/pii/S0960076008000514?via%3Dihub

Molecular Bases and Phenotypic Determinants of Aromatase Excess Syndrome
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3272822/

Aromatase and estrogen receptor α deficiency
http://www.fertstert.org/article/S0015-0282(13)03454-7/fulltext

Aromatase Excess Syndrome: Identification of Cryptic Duplications and Deletions Leading to Gain of Function of CYP19A1 and Assessment of Phenotypic Determinants
https://academic.oup.com/jcem/article/96/6/E1035/2833840

Transcriptional Regulation of Steroidogenic Genes: STARD1, CYP11A1 and HSD3B
http://journals.sagepub.com/doi/abs/10.3181/0903-MR-97?journalCode=ebmb

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