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Paper Details

Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.
Neurology
27
2016
Aicardi-Goutires syndrome, Endothelial, JAM3, OCLN, PCDH12, PCDH12 c, PCDH12 p, PCDH12 p., PCDH12 p.R839X, R839X, c.2515C, child, children, congenital microcephaly, developmental disability, dysplastic elongated masses, epilepsy, homozygous region, hyperechogenic brain, hypothalamic midbrain dysplasia, intracranial calcifications, intrauterine growth retardation, intrauterine infection, microcephaly, neonatal seizures, patients, psychomotor disability, recessive congenital microcephaly, vascular endothelial protocadherin
Author NameAffiliation
Ming K LeeShaare Zedek Medical Center Hebrew University-Hadassah School of Medicine (A.A., Jerusalem Jerusalem Mental Health Center (Y.K.), Eitanim Psychiatric Hospital, Bethlehem University, University of Washington
Ming K LeeShaare Zedek Medical Center Hebrew University-Hadassah School of Medicine (A.A., Jerusalem Jerusalem Mental Health Center (Y.K.), Eitanim Psychiatric Hospital, Bethlehem University, University of Washington
Tom WalshShaare Zedek Medical Center Hebrew University-Hadassah School of Medicine (A.A., Jerusalem Jerusalem Mental Health Center (Y.K.), Eitanim Psychiatric Hospital, Bethlehem University, University of Washington
Tom WalshShaare Zedek Medical Center Hebrew University-Hadassah School of Medicine (A.A., Jerusalem Jerusalem Mental Health Center (Y.K.), Eitanim Psychiatric Hospital, Bethlehem University, University of Washington
Mary-Claire KingShaare Zedek Medical Center Hebrew University-Hadassah School of Medicine (A.A., Jerusalem Jerusalem Mental Health Center (Y.K.), Eitanim Psychiatric Hospital, Bethlehem University, University of Washington
Mary-Claire KingShaare Zedek Medical Center Hebrew University-Hadassah School of Medicine (A.A., Jerusalem Jerusalem Mental Health Center (Y.K.), Eitanim Psychiatric Hospital, Bethlehem University, University of Washington
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