GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria

GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria

Polymicrogyria is a disorder of neuronal migration characterized by excessive cortical folding and partially fused gyri separated by shallow sulci. Homozygous mutations in the GPR56 gene, which regulates migration of neural precursor cells, are associated with bilateral frontoparietal polymicrogyri...

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Bibliographic Details
Main Authors: Tülay Öncü-Öner, Semra Hız-Kurul, Bayram Yüksel, Bekir Ergüner, Aydan Saraç, Handan Güleryüz, Sinem Ağılkaya, İlknur Porsuk-Doru, Aycan Ünalp, Sultan Cingöz
Format: Article
Language:English
Published: Hacettepe University Institute of Child Health 2018-06-01
Series:The Turkish Journal of Pediatrics
Subjects:
BFPP
GPR56 mutations
polymicrogyria
whole exome sequencing
Online Access:https://turkjpediatr.org/article/view/847
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https://turkjpediatr.org/article/view/847

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