Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report

被引：0
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作者：
Camila Simoes
Martín Graña
Soledad Rodriguez
Federico Baltar Yanes
Alejandra Tapié
Nicolás Dell’Oca
Hugo Naya
Víctor Raggio
Lucía Spangenberg
机构：
[1] Institut Pasteur de Montevideo,Bioinformatics Unit
[2] CENUR Litoral Norte,Biological Engineering Group
[3] Universidad de La República,Departamento de Genética, Facultad de Medicina
[4] Universidad de La República,Cátedra de Neuropediatría, Facultad de Medicina
[5] Centro Hospitalario Pereira Rossell,Departamento de Producción Animal y Pasturas, Facultad de Agronomía
[6] Universidad de La República,Departamento Básico de Medicina
[7] Universidad de La República,undefined
[8] Hospital de Clínicas,undefined
[9] Universidad de la República,undefined
来源：
BMC Pediatrics | / 22卷
关键词：
Lissencephaly; Whole-genome sequencing; Rare disease; Novel mutation; Case report;
D O I：
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