Article
Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus.
American journal of medical genetics. Part A - 1 Sept 2013
Sparrow Duncan B, Faqeih Eissa Ali, Sallout Bahauddin, Alswaid Abdulrahman, Ababneh Faroug, Al-Sayed Moeenaldeen, Rukban Hadeel, Eyaid Wafaa M, Kageyama Ryoichiro, Ellard Sian, Turnpenny Peter D, Dunwoodie Sally L
Abstract excerpt
Spondylocostal dysotosis (SCD) is a rare developmental congenital abnormality of the axial skeleton. Mutation of genes in the Notch signaling pathway cause SCD types 1-5. Dextrocardia with situs inversus is a rare congenital malformation in which the thoracic and abdominal organs are mirror images of normal. Such laterality defects are associated with gene mutations in the Nodal signaling pathway or cilia...
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