Article
Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2018
Leibovitz Zvi, Mandel Hanna, Falik-Zaccai Tzipora C, Ben Harouch Shani, Savitzki David, Krajden-Haratz Karina, Gindes Liat, Tamarkin Mordechai, Lev Dorit, Dobyns William B, Lerman-Sagie Tally
Abstract excerpt
OBJECTIVES: To elaborate the imaging phenotype associated with a homozygous c.743C > del frameshift mutation in DAG1 leading to complete absence of both α- and β-dystroglycan previously reported in a consanguineous Israeli-Arab family. METHODS: We analyzed prenatal and postnatal imaging data of patients from a consanguineous Israeli-Arab kindred harboring the DAG1 mutation. RESULTS: The imaging studies (fetal...
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