Associated Papers
Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease.
Tingaud-Sequeira A et al.
Journal of Medical Genetics, 2022
Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3.
Trimouille A et al.
Clinical Genetics, 2020
A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field.
El Malti R et al.
European Journal of Human Genetics : Ejhg, 2016
Genetic and functional analyses of ZIC3 variants in congenital heart disease.
Cowan J et al.
Human Mutation, 2014
Select a paper to view details