Associated Papers
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations
A case series of a mother and two daughters with a GLI2 gene deletion demonstrating variable expressivity and incomplete penetrance.
Elward C et al.
Clinical Case Reports, 2020
Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization.
Babu D et al.
Clinical Endocrinology, 2019
Extreme phenotypic variability of a novel GLI2 mutation in a large family with panhypopituitarism and polydactyly: clinical implications.
Kremer Hovinga ICL et al.
Clinical Endocrinology, 2018
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