A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene

A novel homozygous long-range deletion of the CYP17A1 gene abolished protein expression and caused the severest form of 17-hydroxylase deficiency in one kindred of a Turkish family. The affected subjects presented with 46,XY sex reversal and 46,XX lack of pubertal development as well as severe hyper...

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Autores principales: Camats, Núria, Üstyol, Ala, Atabek, Mehmet Emre, Dick, Bernhard, Flück, Christa E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4614641/
https://www.ncbi.nlm.nih.gov/pubmed/26509008
http://dx.doi.org/10.1002/ccr3.343
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author Camats, Núria
Üstyol, Ala
Atabek, Mehmet Emre
Dick, Bernhard
Flück, Christa E
author_facet Camats, Núria
Üstyol, Ala
Atabek, Mehmet Emre
Dick, Bernhard
Flück, Christa E
author_sort Camats, Núria
collection PubMed
description A novel homozygous long-range deletion of the CYP17A1 gene abolished protein expression and caused the severest form of 17-hydroxylase deficiency in one kindred of a Turkish family. The affected subjects presented with 46,XY sex reversal and 46,XX lack of pubertal development as well as severe hypertension.
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spelling pubmed-46146412015-10-27 A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene Camats, Núria Üstyol, Ala Atabek, Mehmet Emre Dick, Bernhard Flück, Christa E Clin Case Rep Case Reports A novel homozygous long-range deletion of the CYP17A1 gene abolished protein expression and caused the severest form of 17-hydroxylase deficiency in one kindred of a Turkish family. The affected subjects presented with 46,XY sex reversal and 46,XX lack of pubertal development as well as severe hypertension. John Wiley & Sons, Ltd 2015-10 2015-08-26 /pmc/articles/PMC4614641/ /pubmed/26509008 http://dx.doi.org/10.1002/ccr3.343 Text en © 2015 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. http://creativecommons.org/licenses/by-nc/4.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
Camats, Núria
Üstyol, Ala
Atabek, Mehmet Emre
Dick, Bernhard
Flück, Christa E
A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene
title A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene
title_full A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene
title_fullStr A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene
title_full_unstemmed A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene
title_short A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene
title_sort novel cyp17a1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a turkish family and illustrates the precise role of the cyp17a1 gene
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4614641/
https://www.ncbi.nlm.nih.gov/pubmed/26509008
http://dx.doi.org/10.1002/ccr3.343
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