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. 2019 Feb;95(2):339-340.

doi: 10.1111/cge.13466. Epub 2018 Nov 20.

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

María-Isabel Tejada^{1

2

3}, Xabier Elcoroaristizabal⁴, Nekane Ibarluzea^{2

3}, María-Pilar Botella⁵, Ana-Belén de la Hoz^{2

3}, Intzane Ocio⁵

Affiliations

Affiliations

¹ Genetics Service, Cruces University Hospital, Barakaldo, Spain.
² Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.
³ Clinical Group affiliated with the Centre for Biomedical Research on Rare Diseases (CIBERER), Valencia, Spain.
⁴ Genetracer Biotech, Santander, Spain.
⁵ Department of Paediatric Neurology, Araba University Hospital, Vitoria-Gasteiz, Spain.

PMID: 30460678
DOI: 10.1111/cge.13466

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

María-Isabel Tejada et al. Clin Genet. 2019 Feb.

. 2019 Feb;95(2):339-340.

doi: 10.1111/cge.13466. Epub 2018 Nov 20.

Authors

María-Isabel Tejada^{1

2

3}, Xabier Elcoroaristizabal⁴, Nekane Ibarluzea^{2

3}, María-Pilar Botella⁵, Ana-Belén de la Hoz^{2

3}, Intzane Ocio⁵

Affiliations

¹ Genetics Service, Cruces University Hospital, Barakaldo, Spain.
² Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.
³ Clinical Group affiliated with the Centre for Biomedical Research on Rare Diseases (CIBERER), Valencia, Spain.
⁴ Genetracer Biotech, Santander, Spain.
⁵ Department of Paediatric Neurology, Araba University Hospital, Vitoria-Gasteiz, Spain.

PMID: 30460678
DOI: 10.1111/cge.13466

No abstract available

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