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 DuyvenvoordePublished 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.