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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التفاصيل البيبلوغرافية
المؤلف الرئيسي:	Eyyup Uctepe (19342522) (author)
مؤلفون آخرون:	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)
منشور في:	2023
الموضوعات:	Biomedical and clinical sciences Clinical sciences Neurosciences Disease genetics Genetic testing Genetics research Neurodevelopmental disorders
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Bi-allelic truncating variants in <i>CASP2</i> underlie a neurodevelopmental disorder with lissencephaly

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