De novo 11q deletion including SHANK2 in a patient with global developmental delay-Reference-Cited by-同舟云学术

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De novo 11q deletion including SHANK2 in a patient with global developmental delay

Published:2017-02-17 Issue:3 Volume:173 Page:801-805
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Marcou Cherisse A.¹,Studinski Jones April L.¹,Murphree Marine I.²,Kirmani Salman³,Hoppman Nicole L.¹

Affiliation:

1. Department of Laboratory Medicine and Pathology; Mayo Clinic; Rochester Minnesota

2. Department of Medical Genetics; Mayo Clinic; Rochester Minnesota

3. Division of Women and Child Health, ; Department of Paediatrics and Child Health; The AGA Khan University; Karachi Pakistan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference9 articles.

1. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation;Berkel;Nat Genet,2010

2. Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology;Berkel;Hum Mol Genet,2012

3. A copy number variation morbidity map of developmental delay;Cooper;Nat Genet,2011

4. Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders;Leblond;PLoS Genet,2012

5. Functional impact of global rare copy number variation in autism spectrum disorders;Pinto;Nature,2010

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Description of a patient with developmental delay and dysmorphic features caused by a novel SHANK2 deletion;Egyptian Journal of Medical Human Genetics;2023-12-13

2. Identification of novel SHANK2 variants in two Chinese families via exome and RNA sequencing;Frontiers in Neuroscience;2023-11-24

3. 11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four‐way balanced chromosomal translocation;Molecular Genetics & Genomic Medicine;2023-07-21

4. De novo 11q13.3q13.4 deletion in a patient with Fanconi renotubular syndrome and intellectual disability: Case report and review of literature;Frontiers in Pediatrics;2023-04-21

5. Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder;Genes;2022-04-14

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