Article
A large duplication involving the IHH locus mimics acrocallosal syndrome.
European journal of human genetics : EJHG - 1 Jun 2012
Yuksel-Apak Memnune, Bögershausen Nina, Pawlik Barbara, Li Yun, Apak Selcuk, Uyguner Oya, Milz Esther, Nürnberg Gudrun, Karaman Birsen, Gülgören Ayan, Grzeschik Karl-Heinz, Nürnberg Peter, Kayserili Hülya, Wollnik Bernd
Abstract excerpt
Indian hedgehog (Ihh) signaling is a major determinant of various processes during embryonic development and has a pivotal role in embryonic skeletal development. A specific spatial and temporal expression of Ihh within the developing limb buds is essential for accurate digit outgrowth and correct digit number. Although missense mutations in IHH cause brachydactyly type A1, small tandem duplications involving the...
Topics
- Abnormalities, Multiple
- Acrocallosal Syndrome
- Adult
- Child
- Female
- Genes, Duplicate
- Hedgehog Proteins
- Humans
- Infant, Newborn
- Limb Deformities, Congenital
- Male
- Polymorphism, Single Nucleotide
- Syndactyly