Ontology highlight
ABSTRACT:
SUBMITTER: Issa YA
PROVIDER: S-EPMC5027678 | biostudies-literature | 2016 Oct
REPOSITORIES: biostudies-literature
Issa Yasmin A YA Kamal Lara L Rayyan Amal Abu AA Dweik Dima D Pierce Sarah S Lee Ming K MK King Mary-Claire MC Walsh Tom T Kanaan Moien M
European journal of human genetics : EJHG 20160406 10
Tooth development is controlled by the same processes that regulate formation of other ectodermal structures. Mutations in the genes underlying these processes may cause ectodermal dysplasia, including severe absence of primary or permanent teeth. Four consanguineous Palestinian families presented with oligodontia and hair and skin features of ectodermal dysplasia. Appearance of ectodermal dysplasia was consistent with autosomal recessive inheritance. Exome sequencing followed by genotyping of 5 ...[more]