Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency

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 IG...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:Proc Natl Acad Sci U S A
Main Authors: 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., Al Tassan, Nada, Katsanis, Nicholas, Crowley, William F.
Format: Artigo
Jezik:Inglês
Izdano: National Academy of Sciences 2014
Teme:
Biological Sciences
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4273325/
https://ncbi.nlm.nih.gov/pubmed/25472840
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1417438111
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