Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants-Reference-Cited by-同舟云学术

Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants

Published:2018-08 Issue:8 Volume:20 Page:872-881
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

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,Pitteloud Nelly

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/gim2017197.pdf

Reference34 articles.

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2. Digenic CHD7 and SMCHD1 inheritance Unveils phenotypic variability in a family mainly presenting with hypogonadotropic hypogonadism;Heliyon;2024-01

3. Clinical and molecular features of 40 Chinese patients with idiopathic hypogonadotropic hypogonadism;Translational Andrology and Urology;2023-09

4. Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report;BMC Endocrine Disorders;2023-05-25

5. Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series;International Journal of Molecular Sciences;2023-04-18