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
Hypothesis: Symbrachydactyly.
Holmes LB et al.
American Journal of Medical Genetics. Part A, 2022
Deletion of 2 amino acids in IHH in a Japanese family with brachydactyly type A1.
Ozaki N et al.
Bmc Medical Genomics, 2021
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
Mutation screening in candidate genes in four Chinese brachydactyly families.
Dong S et al.
Annals of Clinical and Laboratory Science, 2015
A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012.
Cui Y et al.
Orphanet Journal of Rare Diseases, 2012
Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson.
Palka C et al.
Clinical Dysmorphology, 2012
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
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
[Clinical investigation of a family with brachydactyly type A1 and the identification of the disease gene].
Ke X et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2009
The mode of Hedgehog binding to Ihog homologues is not conserved across different phyla.
McLellan JS et al.
Nature, 2008
Recurrence of the D100N mutation in a Chinese family with brachydactyly type A1: evidence for a mutational hot spot in the Indian hedgehog gene.
Zhu G et al.
American Journal of Medical Genetics. Part A, 2007
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
Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family.
Giordano N et al.
Journal of Medical Genetics, 2003
A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.
McCready ME et al.
Human Genetics, 2002
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