Associated Papers
A Novel Heterozygous IHH c.331_333del Mutation Identified in a Fetus with Brachydactyly Type A1 Causes IHH Protein Maturation Failure in HEK293T Cells.
Zhu T et al.
Phenomics (cham, Switzerland), 2025
RAS-ON inhibition overcomes clinical resistance to KRAS G12C-OFF covalent blockade.
Nokin MJ et al.
Nature Communications, 2024
39215000 (PubMed )
Supplement: 41467_2024_51828_MOESM5_ESM.xlsx › somatic_driver_variants
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
Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature.
Andrade NLM et al.
Endocrine Connections, 2022
Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.
Sentchordi-Montané L et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
A novel variant of IHH in a Chinese family with brachydactyly type 1.
Yang Q et al.
Bmc Medical Genetics, 2020
IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.
Vasques GA et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
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