Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency
Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency
About this item
Full title
Author / Creator
Balasubramanian, Ravikumar , Choi, Jin-Ho , Francescatto, Ludmila , Willer, Jason , Horton, Edward R. , Asimacopoulos, Eleni P. , Stankovic, Konstantina M. , Plummer, Lacey , Buck, Cassandra L. , Quinton, Richard , Nebesio, Todd D. , Mericq, Veronica , Merino, Paulina M. , Meyer, Brian F. , Monies, Dorota , Gusella, James F. , Tassan, Nada Al , Katsanis, Nicholas and Crowley, William F.
Publisher
United States: National Academy of Sciences
Journal title
Language
English
Formats
Publication information
Publisher
United States: National Academy of Sciences
Subjects
More information
Scope and Contents
Contents
Inactivating mutations in chromodomain helicase DNA binding protein 7 ( CHD7 ) cause CHARGE syndrome, a severe multiorgan system disorder of which Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is a minor feature. Recent reports have described predominantly missense CHD7 alleles in IGD patients, but it is unclear if these alleles a...
Alternative Titles
Full title
Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency
Authors, Artists and Contributors
Author / Creator
Choi, Jin-Ho
Francescatto, Ludmila
Willer, Jason
Horton, Edward R.
Asimacopoulos, Eleni P.
Stankovic, Konstantina M.
Plummer, Lacey
Buck, Cassandra L.
Quinton, Richard
Nebesio, Todd D.
Mericq, Veronica
Merino, Paulina M.
Meyer, Brian F.
Monies, Dorota
Gusella, James F.
Tassan, Nada Al
Katsanis, Nicholas
Crowley, William F.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_jstor_primary_43278814
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_jstor_primary_43278814
Other Identifiers
ISSN
0027-8424
E-ISSN
1091-6490
DOI
10.1073/pnas.1417438111
