Ontology highlight
ABSTRACT:
SUBMITTER: Valente EM
PROVIDER: S-EPMC1180692 | biostudies-literature | 2003 Sep
REPOSITORIES: biostudies-literature
Valente Enza Maria EM Salpietro Damiano Carmelo DC Brancati Francesco F Bertini Enrico E Galluccio Tiziana T Tortorella Gaetano G Briuglia Silvana S Dallapiccola Bruno B
American journal of human genetics 20030807 3
Cerebello-oculo-renal syndromes (CORSs) and Joubert syndrome (JS) are clinically and genetically heterogeneous autosomal recessive syndromes that share a complex neuroradiological malformation resembling a molar tooth on brain axial images, a condition referred to as "molar tooth on imaging" (MTI) or the "molar tooth sign." The current literature on these syndromes is complex, with overlapping and incomplete phenotypes that complicate the selection of clinically homogeneous cases for genetic pur ...[more]