A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion-Reference-Cited by-全球学者库

A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion

Published:2014-08-18 Issue:6 Volume:2 Page:512-521
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Viñas‐Jornet Marina¹²,Esteba‐Castillo Susanna³,Gabau Elisabeth¹,Ribas‐Vidal Núria³,Baena Neus¹,San Joan³,Ruiz Anna¹,Coll Maria Dolors²,Novell Ramon³,Guitart Miriam¹

Affiliation:

1. Laboratori de Genètica UDIAT‐Centre Diagnòstic Corporació Sanitària Parc Taulí, Institut Universitari Parc Tauli‐UAB Sabadell Spain

2. Unitat de Biologia Cellular Facultat de Biociències Universitat Autònoma de Barcelona Bellaterra Spain

3. Servei Especialitzat de Salut Mental i Discapacitat Intellectual Institut Asistència Sanitària (IAS) Parc Hospitalari Martí i Julià Girona Spain

Funder

Fundaciï¿½ Barnola-Vallribera 2011

Fundaciï¿½ Parc Taulï¿½-Institut Universitari UAB

Instituto de Salud Carlos III-FIS

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.105

Reference37 articles.

1. Genetic investigation for adults with intellectual disability

2. Molecular and clinical characterization of 25 individuals with exonic deletions ofNRXN1and comprehensive review of the literature

3. Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes

4. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

5. Mental ill-health in adults with intellectual disabilities: prevalence and associated factors

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