A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis

A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis

Abstract Extreme microcephaly and rhombencephalosynapsis represent unusual pathological conditions, each of which occurs in isolation or in association with various other cerebral and or extracerebral anomalies. Unlike microcephaly for which several disease-causing genes have been identified with di...

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Bibliographic Details
Main Authors: Myriam Vezain, Matthieu Lecuyer, Marina Rubio, Valérie Dupé, Leslie Ratié, Véronique David, Laurent Pasquier, Sylvie Odent, Sophie Coutant, Isabelle Tournier, Laetitia Trestard, Homa Adle-Biassette, Denis Vivien, Thierry Frébourg, Bruno J Gonzalez, Annie Laquerrière, Pascale Saugier-Veber
Format: Article
Language:English
Published: BMC 2018-10-01
Series:Acta Neuropathologica Communications
Subjects:
ADGRL2
LPHN2
Adhesion-GPCR
Alpha-latrotoxin
Human extreme microcephaly
Rhombencephalosynapsis
Online Access:http://link.springer.com/article/10.1186/s40478-018-0610-5

Internet

http://link.springer.com/article/10.1186/s40478-018-0610-5

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