Open AccessSAT-LB071 Loss of Function (LoF) mutations in TCF12 Cause Autosomal Dominant Kallmann Syndrome and Reveal Network-level Interactions Between Causal Loci
Author(s) -
David L. Keefe,
Ravikumar Balasubramanian,
Erica E. Davis,
Zachary A. Kupchinsky,
Lacey Plummer,
Błażej Męczekalski,
Karen E. Heath,
Gomathi Margabanthu,
Susan Price,
James Greening,
Margaret E. Wierman,
William F. Crowley,
Nicholas Katsanis
Publication year - 2019
Publication title -
journal of the endocrine society
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.046
H-Index - 20
ISSN - 2472-1972
DOI - 10.1210/js.2019-sat-lb071
Subject(s) - biology , genetics , zebrafish , kallmann syndrome , phenotype , exome sequencing , mutation , gene , medicine , disease , covid-19 , infectious disease (medical specialty)