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
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in Genetics, 2025
40567897 (PubMed )
Supplement: Supplementaryfile1.xls › Sheet1
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
Deletion of 2 amino acids in IHH in a Japanese family with brachydactyly type A1.
Ozaki N et al.
Bmc Medical Genomics, 2021
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
Prenatal diagnosis of skeletal dysplasias using a targeted skeletal gene panel.
Zhou X et al.
Prenatal Diagnosis, 2018
Mutation screening in candidate genes in four Chinese brachydactyly families.
Dong S et al.
Annals of Clinical and Laboratory Science, 2015
Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1.
Lodder EM et al.
American Journal of Medical Genetics. Part A, 2008
Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene.
Stattin EL et al.
European Journal of Medical Genetics, 0
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