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17α-Hydroxylase Deficiency Diagnosed in Early Infancy Caused by a Novel Mutation of the CYP17A1 Gene
Autor:
Christina Petri, Maik Welzel, Jens Siegel, Sabine Heger, Paul-Martin Holterhus, Felix G. Riepe, Alexandra Kulle, Michaela F. Hartmann, Joachim Grötzinger, Ralf L. Schild, Stefan A. Wudy
Publikováno v:
Hormone Research in Paediatrics. 81:350-355
Background: Mutations of the CYP17A1 gene cause 17α-hydroxylase deficiency (17OHD) resulting in 46,XY disorder of sex development, hypertension, hypokalemia and absent pubertal development. It is a rare, autosomal recessive form of congenital adrena
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b64f9aa449c1ce21487c20a4ed384d62
https://doi.org/10.1159/000357065
https://doi.org/10.1159/000357065
17α-hydroxylase deficiency diagnosed in early infancy caused by a novel mutation of the CYP17A1 gene
Autor:
Christina, Petri, Stefan A, Wudy, Felix G, Riepe, Paul-Martin, Holterhus, Jens, Siegel, Michaela F, Hartmann, Alexandra E, Kulle, Maik, Welzel, Joachim, Grötzinger, Ralf L, Schild, Sabine, Heger
Publikováno v:
Hormone research in paediatrics. 81(5)
Mutations of the CYP17A1 gene cause 17α-hydroxylase deficiency (17OHD) resulting in 46,XY disorder of sex development, hypertension, hypokalemia and absent pubertal development. It is a rare, autosomal recessive form of congenital adrenal hyperplasi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a20064b68cbff89ded093806ed0b1fd8
https://pubmed.ncbi.nlm.nih.gov/24714196
https://pubmed.ncbi.nlm.nih.gov/24714196