Bi-allelic truncating variants in <i>CASP2</i> underlie a neurodevelopmental disorder with lissencephaly

Bi-allelic truncating variants in <i>CASP2</i> underlie a neurodevelopmental disorder with lissencephaly

<p dir="ltr">Lissencephaly (LIS) is a malformation of cortical development due to deficient neuronal migration and abnormal formation of cerebral convolutions or gyri. Thirty-one LIS-associated genes have been previously described. Recently, biallelic pathogenic variants in CRADD and...

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Main Author: Eyyup Uctepe (19342522) (author)
Other Authors: Barbara Vona (5237843) (author), Fatma Nisa Esen (18158002) (author), F. Mujgan Sonmez (19342525) (author), Thomas Smol (14235260) (author), Sait Tümer (19342528) (author), Hanifenur Mancılar (19342531) (author), Dilan Ece Geylan Durgun (19342534) (author), Odile Boute (14829724) (author), Meysam Moghbeli (19342537) (author), Ehsan Ghayoor Karimiani (19342540) (author), Narges Hashemi (12194033) (author), Behnoosh Bakhshoodeh (19342543) (author), Hyung Goo Kim (6392531) (author), Reza Maroofian (5237852) (author), Ahmet Yesilyurt (18158005) (author)
Published: 2023
Subjects:
Biomedical and clinical sciences
Clinical sciences
Neurosciences
Disease genetics
Genetic testing
Genetics research
Neurodevelopmental disorders
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