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Paper Details

Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.
Ann Neurol
18
2018
DMJD, Diencephalic-Mesencephalic Junction Dysplasia Syndrome, PCDH12, Patient, Protocadherin, Protocadherin-12, abnormalities of white matter tracts, appendicular spasticity, autosomal-recessive malformation, axial hypotonia, brainstem malformation, brainstem malformations, craniofacial dysmorphism, diencephalic-mesencephalic junction dysplasia (DMJD) syndrome, endothelial cells, epilepsy, induced pluripotent stem cells, microcephaly, neural and endothelial cells, neural precursor, patients, protocadherin-12, psychomotor disability, thinned corpus callosum, white matter tract defects
Author NameAffiliation
Ahmet Okay CaglayanYale School of Medicine
Maha S ZakiNational Research Centre
Naiara AkizuUniversity of California
Jennifer L SilhavyUniversity of California
Jana SchrothUniversity of California
Rasim O RostiHoward Hughes Medical Institute, Rockefeller University
Brett CopelandHoward Hughes Medical Institute, Rockefeller University
Mahmoud Y IssaNational Research Centre
Kaya BilguvarYale School of Medicine
Stacey GabrielBroad Institute of Harvard and Massachusetts Institute of Technology
Stacey GabrielBroad Institute of Harvard and Massachusetts Institute of Technology
Murat GunelYale School of Medicine
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