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
Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean.
Verberne EA et al.
American Journal of Medical Genetics. Part A, 2022
Advances in differential diagnosis and management of growth hormone deficiency in children.
Hage C et al.
Nature Reviews. Endocrinology, 2021
Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants.
Yamada M et al.
American Journal of Medical Genetics. Part A, 2021
Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency.
Verberne EA et al.
American Journal of Medical Genetics. Part A, 2020
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