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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Proc Natl Acad Sci U S A
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: National Academy of Sciences 2014
Soggetti:
Biological Sciences
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi