Associated Papers
A Novel RNPC3 Gene Variant Expands the Phenotype in Patients with Congenital Hypopituitarism and Neuropathy.
Yavas Abali Z et al.
Hormone Research in Paediatrics, 2024
A homozygous Y443C variant in the RNPC3 is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy.
Bezen D et al.
American Journal of Medical Genetics. Part A, 2022
Select a paper to view details