Browsing by Subject "Kallmann syndrome"

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    • Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency 
      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, Verónica; Merino, Paulina M.; Meyer, (National Academy of Sciences, 2014)
      © 2014, National Academy of Sciences. All rights reserved. Inactivating mutations in chromodomain helicase DNA binding protein 7 (CHD7) cause CHARGE syndrome, a severe multiorgan system disorder of which Isolated ...