A male patient presenting with major clinical symptoms of glucocorticoid deficiency and skeletal dysplasia, showing a steroid pattern compatible with 17alpha-hydroxylase/17,20-lyase deficiency, but without obvious CYP17 gene mutations.
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The molecular biology, biochemistry, and physiology of human steroidogenesis and its disordersMutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndromeFamilial partial 17,20-desmolase and 17alpha-hydroxylase deficiency presenting as infertility.Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child.From cholesterogenesis to steroidogenesis: role of riboflavin and flavoenzymes in the biosynthesis of vitamin D.
P2860
A male patient presenting with major clinical symptoms of glucocorticoid deficiency and skeletal dysplasia, showing a steroid pattern compatible with 17alpha-hydroxylase/17,20-lyase deficiency, but without obvious CYP17 gene mutations.
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
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1999年學術文章
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name
A male patient presenting with ...... obvious CYP17 gene mutations.
@en
A male patient presenting with ...... obvious CYP17 gene mutations.
@nl
type
label
A male patient presenting with ...... obvious CYP17 gene mutations.
@en
A male patient presenting with ...... obvious CYP17 gene mutations.
@nl
prefLabel
A male patient presenting with ...... obvious CYP17 gene mutations.
@en
A male patient presenting with ...... obvious CYP17 gene mutations.
@nl
P2093
P356
P1433
P1476
A male patient presenting with ...... t obvious CYP17 gene mutations
@en
P2093
P304
P356
10.1507/ENDOCRJ.46.285
P577
1999-04-01T00:00:00Z