Associated Papers
Case Report: A Novel Point Mutation of SOX3 in a Subject With Growth Hormone Deficiency, Hypogonadotrophic Hypogonadism, and Borderline Intellectual Disability.
Li J et al.
Frontiers in Endocrinology, 2022
Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum.
Nakaguma M et al.
Genes, 2021
Congenital hypopituitarism in two brothers with a duplication of the 'acrogigantism gene' GPR101: clinical findings and review of the literature.
Elizabeth MSM et al.
Pituitary, 2021
Increased transactivation and impaired repression of β-catenin-mediated transcription associated with a novel SOX3 missense mutation in an X-linked hypopituitarism pedigree with modest growth failure.
Yu T et al.
Molecular and Cellular Endocrinology, 2018
A complex phenotype in a family with a pathogenic SOX3 missense variant.
Jelsig AM et al.
European Journal of Medical Genetics, 2018
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