SAT-LB071 Loss of Function (LoF) mutations in TCF12 Cause Autosomal Dominant Kallmann Syndrome and Reveal Network-level Interactions Between Causal Loci

Dysfunction of Gonadotropin-releasing hormone (GnRH) causes a range of reproductive disorders resulting from defects in the specification, migration and/or function of GnRH neurons. To identify new genetic and molecular components of this system, we performed whole exome sequencing (WES) of families...

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Detalles Bibliográficos
Autores principales: Keefe, David, Balasubramanian, Ravikumar, Davis, Erica, Kupchinsky, Zachary, Plummer, Lacey, Meczekalski, Blazej, Heath, Karen, Margabanthu, Gomathi, Price, Susan, Greening, James, Wierman, Margaret, Crowley, William, Katsanis, Nicholas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2019
Materias:
Neuroendocrinology and Pituitary
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6552186/
http://dx.doi.org/10.1210/js.2019-SAT-LB071

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6552186/
http://dx.doi.org/10.1210/js.2019-SAT-LB071

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