Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency

CONTEXT: Loss of function (LoF) mutations in more than 20 genes are now known to cause isolated GnRH deficiency (IGD) in humans. Most causal IGD mutations are typically private, ie, limited to a single individual/pedigree. However, somewhat paradoxically, four IGD genes (GNRH1, TAC3, PROKR2, and GNR...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:J Clin Endocrinol Metab
Main Authors: Choi, Jin-Ho, Balasubramanian, Ravikumar, Lee, Phil H., Shaw, Natalie D., Hall, Janet E., Plummer, Lacey, Buck, Cassandra L., Kottler, Marie-Laure, Jarzabek, Katarzyna, Wołczynski, Sławomir, Quinton, Richard, Latronico, Ana Claudia, Dode, Catherine, Ogata, Tsutomu, Kim, Hyung-Goo, Layman, Lawrence C., Gusella, James F., Crowley, William F.
Format: Artigo
Sprog:Inglês
Udgivet: Endocrine Society 2015
Fag:
JCEM Online: Advances in Genetics
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4596034/
https://ncbi.nlm.nih.gov/pubmed/26207952
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2015-2262
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker