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. |
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| 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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| ISSN: | 1399-0004 |
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| DOI: | 10.1111/cge.13466 |
