Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.

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第一作者： Anya,Revah-Politi

第一单位： Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.

作者： Anya,Revah-Politi ^[1] ; Mythily,Ganapathi ^[2] ; Louise,Bier ^[1] ; Megan T,Cho ^[3] ; David B,Goldstein ^[1] ; Parisa,Hemati ^[1] ; Alejandro,Iglesias ^[4] ; Jane,Juusola ^[3] ; John,Pappas ^[5] ; Slavé,Petrovski ^[6] ; Ashley L,Wilson ^[7] ; Vimla S,Aggarwal ^[8] ; Kwame,Anyane-Yeboa ^[4]

作者单位： Institute for Genomic Medicine, Columbia University Medical Center, New York, New York. ^[1] Department of Pathology and Cell Biology, Columbia University Medical Center, New York, New York. ^[2] GeneDx, Gaithersburg, Maryland. ^[3] Department of Pediatrics, Division of Clinical Genetics, Columbia University Medical Center (CUMC), New York, New York. ^[4] Department of Pediatrics, New York University School of Medicine, New York, New York. ^[5] Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.;Department of Medicine, Austin Health and Royal Melbourne Hospital, University of Melbourne, Melbourne, Australia. ^[6] Department of Pediatrics, Children's Hospital of New York-Presbyterian, New York, New York. ^[7] Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.;Department of Pathology and Cell Biology, Columbia University Medical Center, New York, New York. ^[8]

关键词 Arnold-Chiari malformation NFIA agenesis of corpus callosum chromosome 1p32-p31 deletion syndrome developmental disabilities macrocephaly