Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6181485 | Fertility and Sterility | 2014 | 10 Pages |
Abstract
The present study provides further evidence that mutations and deletions in the known causative genes play a relatively minor role in the etiology of HH and that submicroscopic rearrangements encompassing FGFR1 can lead to IHH as a sole recognizable clinical feature. Furthermore, the results indicate for the first time that polyalanine deletions in SOX3 and mutations in WDR11 constitute rare genetic causes of IHH and CPHD, respectively.
Related Topics
Health Sciences
Medicine and Dentistry
Obstetrics, Gynecology and Women's Health
Authors
Yoko M.D., Erina M.A., Susumu M.D., Shuichi M.D., Saori M.D., Maki Ph.D., Tetsuo M.D., Shinichiro M.D., Reiko M.D., Naoko M.D., Kazuhiko Ph.D., Kenichiro M.D., Akihiro M.D., Tsutomu M.D., Yasunori M.D., Maki M.D.,