DLG2 variants in patients with pubertal disorders
DLG2 variants in patients with pubertal disorders
About this item
Full title
Author / Creator
Jee, Youn Hee , Won, Sehoon , Lui, Julian C. , Jennings, Melissa , Whalen, Philip , Yue, Shanna , Temnycky, Adrian G. , Barnes, Kevin M. , Cheetham, Tim , Boden, Matthew G. , Radovick, Sally , Quinton, Richard , Leschek, Ellen W. , Aguilera, Greti , Yanovski, Jack A. , Seminara, Stephanie B. , Crowley, William F. , Delaney, Angela , Roche, Katherine W. and Baron, Jeffrey
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
Impaired function of gonadotropin-releasing hormone (GnRH) neurons can cause a phenotypic spectrum ranging from delayed puberty to isolated hypogonadotropic hypogonadism (IHH). We sought to identify a new genetic etiology for these conditions.
Methods
Exome sequencing was performed in an extended family with autosomal dominant, mar...
Alternative Titles
Full title
DLG2 variants in patients with pubertal disorders
Authors, Artists and Contributors
Author / Creator
Won, Sehoon
Lui, Julian C.
Jennings, Melissa
Whalen, Philip
Yue, Shanna
Temnycky, Adrian G.
Barnes, Kevin M.
Cheetham, Tim
Boden, Matthew G.
Radovick, Sally
Quinton, Richard
Leschek, Ellen W.
Aguilera, Greti
Yanovski, Jack A.
Seminara, Stephanie B.
Crowley, William F.
Delaney, Angela
Roche, Katherine W.
Baron, Jeffrey
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7510947
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7510947
Other Identifiers
ISSN
1098-3600,1530-0366
E-ISSN
1530-0366
DOI
10.1038/s41436-020-0803-8
