Associated Papers
Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects.
Díaz-González F et al.
European Journal of Endocrinology, 2024
Analysis of children with familial short stature: who should be indicated for genetic testing?
Plachy L et al.
Endocrine Connections, 2023
37561071 (PubMed )
Supplement: supplementary_table_3.pdf
Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.
Fidalgo F et al.
Plos One, 2022
35085295 (PubMed )
Supplement: pone.0262419.s002.xlsx › 288_candidate_variants
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.
Zhou Y et al.
Bmc Medical Genetics, 2020
32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL5
High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH.
Plachy L et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.
Mlakar V et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2019
30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › BE-2C
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