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
A Novel Biallelic Variant in IHH Causing Acrocapitofemoral Dysplasia in a Pakistani Family.
Saeed T et al.
Molecular Genetics & Genomic Medicine, 2025
A novel variant of IHH in a Chinese family with brachydactyly type 1.
Yang Q et al.
Bmc Medical Genetics, 2020
PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.
Trakadis YJ et al.
Bmc Medical Genomics, 2014
The new bone biology: pathologic, molecular, and clinical correlates.
Cohen MM
American Journal of Medical Genetics. Part A, 2006
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
Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.
Hellemans J et al.
American Journal of Human 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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