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Keywords: Allelic variants
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Journal Articles

A Single Nucleotide Variant in the Promoter Region of 17β-HSD Type 5 Gene Influences External Genitalia Virilization in Females with 21-Hydroxylase Deficiency

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Subject Area:
Endocrinology , Women's and Children's Health
Laura C. Kaupert, Larissa G. Gomes, Vinícius N. Brito, Sofia H.V. Lemos-Marini, Maricilda P. de Mello, Carlos A. Longui, Cristiane Kochi, Margaret de Castro, Gil Guerra Jr., Berenice B. Mendonca, Tânia A.S.S. Bachega
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2016) 85 (5): 333–338.
https://doi.org/10.1159/000445684
Published Online: 16 April 2016
... Allelic variants 17β-Hydroxysteroid dehydrogenase type 5 [email protected] 29 10 2015 18 03 2016 16 4 2016 Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is an autosomal recessive disease resulting in an impairment of cortisol...
View article titled, A Single Nucleotide Variant in the Promoter Region of 17β-HSD Type 5 Gene Influences External Genitalia Virilization in Females with 21-Hydroxylase Deficiency
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Journal Articles

SHOX Gene Variants: Growth Hormone/Insulin-Like Growth Factor-1 Status and Response to Growth Hormone Treatment

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Subject Area:
Endocrinology , Women's and Children's Health
Sofia Shapiro, Genna W. Klein, Michelle L. Klein, Elizabeth J. Wallach, Ye Fen, James H. Godbold, Robert Rapaport
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2015) 83 (1): 26–35.
https://doi.org/10.1159/000365507
Published Online: 31 January 2015
..., and duplications. Mutations were checked with those published in the human SHOX allelic variant database [ 23 ]. Age, height standard deviation score (SDS), IGF-1 SDS, IGF-BP3, and growth velocity (GV) were compared at baseline between SHOX+ and S HOX- patients . Among GH-treated children, GH dose (mg/kg...
View article titled, SHOX Gene Variants: Growth Hormone/Insulin-Like Growth Factor-1 Status and Response to Growth Hormone Treatment
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