Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature.

F CioppiA Riera-EscamillaA ManilallE GuarducciT TodiscoG CoronaF ColomboM BonomiC A FlanaganCsilla Krausz

Published in: Andrology (2018)

This is the first ncHH patient carrying a novel causative missense mutation of GNRHR with proven 'severe pLOF' due to maternal hUPD/iUPD of chromosome 4. Our literature review shows that functional studies remain essential both for diagnostic and potential therapeutic purposes.

Keyphrases

case report
mitochondrial dna
intellectual disability
copy number
early onset
birth weight
pregnancy outcomes
pregnant women
autism spectrum disorder
genome wide