Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature.

Peter LaufferEveline BoudinDaniëlle C M van der KaaySaskia KoeneArie van HaeringenVera van TellingenWim Van HulTimothy C R PrickettGeert MortierEric A EspinerHermine A van Duyvenvoorde

Published in: Journal of the Endocrine Society (2022)

With this report on a boy with tall stature and macrodactyly of the halluces we further broaden the genotypic and phenotypic spectrum of NPR-C-related tall stature.

Keyphrases

growth hormone
climate change
copy number
drug induced
genome wide