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
A novel variant of IHH in a Chinese family with brachydactyly type 1.
Yang Q et al.
Bmc Medical Genetics, 2020
Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature.
Freire BL et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
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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