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Paper Details

Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
Brain
5
2022
Arg3207Cys, Cys539Arg, Monoallelic variants, RELN, RELN domain, RELN variants, Reelin, amino acids, ataxia, autism, behavioural dysfunction, biallelic, brain malformations, canonical, cerebellar hypoplasia, epilepsy, frontotemporal lissencephaly, humans, intellectual disability, lissencephaly, monoallelic, monoallelic variants, mouse, neurodevelopmental disorders, p, recessive lissencephaly, reeler, schizophrenia, splice-site variants, tremors
Author NameAffiliation
Elena FreriFondazione IRCCS Istituto Neurologico Carlo Besta
Elliot S GershonThe University of Chicago
Elliot S GershonThe University of Chicago
Dietmar R LohmannInstitut fur Humangenetik, Universitatsklinikum Essen
Dietmar R LohmannInstitut fur Humangenetik, Universitatsklinikum Essen
Iman G MahmoudCairo University Children's Hospital
Andrew E TimmsCenter for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute
Maha S ZakiCairo University Children's Hospital
Maha S ZakiClinical Genetics Department, National Research Centre
Joseph G GleesonHoward Hughes Medical Institute, University of California
William B DobynsUniversity of Minnesota
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