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
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
Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in IHH Gene.
Salian S et al.
Journal of Pediatric Genetics, 2017
Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels.
Ma G et al.
Cell Research, 2011
All mammalian Hedgehog proteins interact with cell adhesion molecule, down-regulated by oncogenes (CDO) and brother of CDO (BOC) in a conserved manner.
Kavran JM et al.
The Journal of Biological Chemistry, 2010
The mode of Hedgehog binding to Ihog homologues is not conserved across different phyla.
McLellan JS et al.
Nature, 2008
Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1.
Lodder EM et al.
American Journal of Medical Genetics. Part A, 2008
A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family.
Liu M et al.
Journal of Human Genetics, 2006
Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus.
Kirkpatrick TJ et al.
Journal of Medical Genetics, 2003
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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