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
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
Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.
Sentchordi-Montané L et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
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