MAST1 variant causes mega‐corpus‐callosum syndrome with cortical malformations but without cerebellar hypoplasia

2020 ◽  
Vol 182 (6) ◽  
pp. 1483-1490
Author(s):  
María Elena Rodríguez‐García ◽  
Francisco Javier Cotrina‐Vinagre ◽  
María de los Ángeles Gómez‐Cano ◽  
Ana Martínez de Aragón ◽  
Elena Martín‐Hernández ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Cerebellar Hypoplasia ◽  
Cortical Malformations

scholarly journals Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

Neuron ◽  
2018 ◽  
Vol 100 (6) ◽  
pp. 1354-1368.e5 ◽  
Author(s):  
Ratna Tripathy ◽  
Ines Leca ◽  
Tessa van Dijk ◽  
Janneke Weiss ◽  
Bregje W. van Bon ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Cerebellar Hypoplasia ◽  
Cortical Malformations

Lissencephaly with agenesis of corpus callosum and rudimentary dysplastic cerebellum: a subtype of lissencephaly with cerebellar hypoplasia

2004 ◽  
Vol 107 (1) ◽  
pp. 69-81 ◽  
Author(s):  
Hajime Miyata ◽  
Dennis J. Chute ◽  
James Fink ◽  
Pablo Villablanca ◽  
Harry V. Vinters
Keyword(s):  
Corpus Callosum ◽  
Cerebellar Hypoplasia ◽  
Agenesis Of Corpus Callosum

scholarly journals Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria

PLoS Genetics ◽  
2013 ◽  
Vol 9 (10) ◽  
pp. e1003823 ◽  
Author(s):  
Samin A. Sajan ◽  
Liliana Fernandez ◽  
Sahar Esmaeeli Nieh ◽  
Eric Rider ◽  
Polina Bukshpun ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Copy Number ◽  
De Novo ◽  
Copy Number Variants ◽  
Cerebellar Hypoplasia

Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation

2013 ◽  
Vol 35 (3) ◽  
pp. 274-279 ◽  
Author(s):  
Akihisa Okumura ◽  
Masaharu Hayashi ◽  
Hiromichi Tsurui ◽  
Yoko Yamakawa ◽  
Shinpei Abe ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Cerebellar Hypoplasia ◽  
Ventricular Dilation ◽  
Agenesis Of Corpus Callosum
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