Genetic & Genomic MedicineJournal of Clinical InvestigationPeer-reviewed
A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia
Danielle Whittaker, Roberto Oleari, Louise Cheryl Gregory…·Mehul Dattani
This study identifies a recessive PRDM13 mutation causing congenital hypogonadotropic hypogonadism and cerebellar hypoplasia through mouse models and human expression analysis.