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A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism.

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Title: A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism.
Authors: Tejada MI; Genetics Service, Cruces University Hospital, Barakaldo, Spain.; Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.; Clinical Group affiliated with the Centre for Biomedical Research on Rare Diseases (CIBERER), Valencia, Spain., Elcoroaristizabal X; Genetracer Biotech, Santander, Spain., Ibarluzea N; Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.; Clinical Group affiliated with the Centre for Biomedical Research on Rare Diseases (CIBERER), Valencia, Spain., Botella MP; Department of Paediatric Neurology, Araba University Hospital, Vitoria-Gasteiz, Spain., de la Hoz AB; Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.; Clinical Group affiliated with the Centre for Biomedical Research on Rare Diseases (CIBERER), Valencia, Spain., Ocio I; Department of Paediatric Neurology, Araba University Hospital, Vitoria-Gasteiz, Spain.
Source: Clinical genetics [Clin Genet] 2019 Feb; Vol. 95 (2), pp. 339-340. Date of Electronic Publication: 2018 Nov 20.
Publication Type: Letter; Research Support, Non-U.S. Gov't; Twin Study
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism.
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  Data: <searchLink fieldCode="AU" term="%22Tejada+MI%22">Tejada MI</searchLink>; Genetics Service, Cruces University Hospital, Barakaldo, Spain.; Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.; Clinical Group affiliated with the Centre for Biomedical Research on Rare Diseases (CIBERER), Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Elcoroaristizabal+X%22">Elcoroaristizabal X</searchLink>; Genetracer Biotech, Santander, Spain.<br /><searchLink fieldCode="AU" term="%22Ibarluzea+N%22">Ibarluzea N</searchLink>; Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.; Clinical Group affiliated with the Centre for Biomedical Research on Rare Diseases (CIBERER), Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Botella+MP%22">Botella MP</searchLink>; Department of Paediatric Neurology, Araba University Hospital, Vitoria-Gasteiz, Spain.<br /><searchLink fieldCode="AU" term="%22de+la+Hoz+AB%22">de la Hoz AB</searchLink>; Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.; Clinical Group affiliated with the Centre for Biomedical Research on Rare Diseases (CIBERER), Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Ocio+I%22">Ocio I</searchLink>; Department of Paediatric Neurology, Araba University Hospital, Vitoria-Gasteiz, Spain.
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  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2019 Feb; Vol. 95 (2), pp. 339-340. <i>Date of Electronic Publication: </i>2018 Nov 20.
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  Data: Letter; Research Support, Non-U.S. Gov't; Twin Study
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Munksgaard%22">Munksgaard </searchLink><i>Country of Publication: </i>Denmark <i>NLM ID: </i>0253664 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1399-0004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200099163%22">00099163 </searchLink><i>NLM ISO Abbreviation: </i>Clin Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1111/cge.13466
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        Text: English
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              Text: 2019 Feb
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