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Paper Details

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
Am J Hum Genet
68
2014
A, Arg51, Arg51Cys, Arg51His, Glu49, MAB21L2, MAB21L2-expressing cells, Mab21l2, RNA, amino acid, bilateral, bilateral anophthalmia, bilateral colobomata, c.145G, c.145G>A, c.151C, c.151C>T, c.152G, c.152G>A, c.740G, c.740G>A, children, colobomatous microphthalmia, eye malformations, human, human embryonic kidney 293 cells, intellectual disability, mouse, p.Arg247Gln, p.Arg51Cys, p.Arg51His, p.Glu49Lys, pERK1/2, phospho, phospho-ERK, retinal colobomata, rhizomelic skeletal dysplasia, single, single-exon gene MAB21L2, single-stranded RNA, wild-type MAB21L2
Author NameAffiliation
Stefan JohanssonCenter for Medical Genetics and Molecular Medicine, Haukeland University Hospital, University of Bergen
Luis Sanchez-PulidoMedical Research Council Functional Genomics Unit, University of Oxford
Kathleen A WilliamsonMedical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine
Denise HornInstitut fur Medizinische Genetik
Alison MeynertMedical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine
James S FloydWellcome Trust Sanger Institute
James S FloydWellcome Trust Sanger Institute
Carl A AndersonWellcome Trust Sanger Institute
Shalini N JhangianiBaylor College of Medicine
Donna M MuznyBaylor College of Medicine
Donna M MuznyBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Martin S TaylorMedical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine
Martin S TaylorMedical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine
Matthew E HurlesWellcome Trust Sanger Institute
Matthew E HurlesWellcome Trust Sanger Institute
Chris P PontingMedical Research Council Functional Genomics Unit, University of Oxford
Chris P PontingMedical Research Council Functional Genomics Unit, University of Oxford
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
David R FitzPatrickMedical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine
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