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
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.
Sentchordi-Montané L et al.
European Journal of Endocrinology, 2021
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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