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...

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Detalhes bibliográficos
Publicado no: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.
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2015
Assuntos:
JCEM Online: Advances in Genetics
Acesso em linha: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
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