Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 varia...
Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants
About this item
Full title
Author / Creator
Xu, Cheng , Cassatella, Daniele , van der Sloot, Almer M , Quinton, Richard , Hauschild, Michael , De Geyter, Christian , Flück, Christa , Feller, Katrin , Bartholdi, Deborah , Nemeth, Attila , Halperin, Irene , Pekic Djurdjevic, Sandra , Maeder, Philippe , Papadakis, Georgios , Dwyer, Andrew A , Marino, Laura , Favre, Lucie , Pignatelli, Duarte , Niederländer, Nicolas J , Acierno, James and Pitteloud, Nelly
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Purpose
Congenital hypogonadotropic hypogonadism (CHH), a rare genetic disease caused by gonadotropin-releasing hormone deficiency, can also be part of complex syndromes (e.g., CHARGE syndrome).
CHD7
mutations were reported in 60% of patients with CHARGE syndrome, and in 6% of CHH patients. However, the definition of
CHD7
mutations w...
Alternative Titles
Full title
Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants
Authors, Artists and Contributors
Author / Creator
Cassatella, Daniele
van der Sloot, Almer M
Quinton, Richard
Hauschild, Michael
De Geyter, Christian
Flück, Christa
Feller, Katrin
Bartholdi, Deborah
Nemeth, Attila
Halperin, Irene
Pekic Djurdjevic, Sandra
Maeder, Philippe
Papadakis, Georgios
Dwyer, Andrew A
Marino, Laura
Favre, Lucie
Pignatelli, Duarte
Niederländer, Nicolas J
Acierno, James
Pitteloud, Nelly
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Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1965249300
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1965249300
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/gim.2017.197
