Autism spectrum disorder and intellectual disability in an inherited 2q14.3 micro‐deletion involving CNTNAP5-Reference-Cited by-同舟云学术

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Autism spectrum disorder and intellectual disability in an inherited 2q14.3 micro‐deletion involving CNTNAP5

Published:2020-09-25 Issue:12 Volume:182 Page:3071-3073
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Aleo Sebastiano¹,Milani Donatella¹^ORCID,Pansa Alessandra²,Marchisio Paola¹³,Guerneri Silvana²,Silipigni Rosamaria²

Affiliation:

1. Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy

2. Laboratory of Medical Genetics Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy

3. Department of Pathophysiology and Transplantation University of Milan Milan Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61881

Reference9 articles.

1. Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene

2. A Common Genetic Variant in the Neurexin Superfamily Member CNTNAP2 Increases Familial Risk of Autism

3. Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient

4. Novel de novo 2q14.3 deletion disrupting CNTNAP5 in a girl with intellectual impairment, thin corpus callosum, and microcephaly

5. Characterization of a Family with Rare Deletions in CNTNAP5 and DOCK4 Suggests Novel Risk Loci for Autism and Dyslexia

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1. Differential impacts of Cntnap2 heterozygosity and Cntnap2 null homozygosity on axon and myelinated fiber development in mouse;Frontiers in Neuroscience;2023-01-30

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