Gonadal mosaicism inARID1Bgene causes intellectual disability and dysmorphic features in three siblings-Reference-Cited by-同舟云学术

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Gonadal mosaicism inARID1Bgene causes intellectual disability and dysmorphic features in three siblings

Published:2015-09-23 Issue:1 Volume:170 Page:156-161
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Ben-Salem Salma¹,Sobreira Nara²,Akawi Nadia A.³,Al-Shamsi Aisha M.⁴,John Anne¹,Pramathan Thachillath⁵,Valle David²,Ali Bassam R.¹,Al-Gazali Lihadh⁵

Affiliation:

1. Department of Pathology; College of Medicine and Heath Sciences; United Arab Emirates University; Al-Ain United Arab Emirates

2. Institute of Genetic Medicine; Johns Hopkins University School of Medicine; Baltimore Maryland

3. Wellcome Trust Sanger Institute; Wellcome Trust Genome Campus; Hinxton Cambridge United Kingdom

4. Department of Paediatrics; Tawam Hospital; Al-Ain United Arab Emirates

5. Department of Paediatrics; College of Medicine and Heath Sciences; United Arab Emirates University; Al-Ain United Arab Emirates

Funder

United Arab Emirates University

NIH Office of the Director

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37405/fullpdf

Reference29 articles.

1. Paternal germline mosaicism in collagen VI related myopathies;Armaroli;Eur J Paediatr Neurol,2015

2. A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: Implications for recurrence risk and prenatal diagnosis;Barbaro;Am J Med Genet A,2012

3. Familial de Lange syndrome. Report of three cases in a sibship;Beratis;Clin Genet,1971

4. SWI/SNF chromatin remodeling complexes and cancer;Biegel;Am J Med Genet C Semin Med Genet,2014

5. Mutation analysis of the APC gene in Taiwanese FAP families: Low incidence of APC germline mutation in a distinct subgroup of FAP families;Chiang;Fam Cancer,2010

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1. Recurrence of ARID1B-related Coffin-Siris Syndrome by possible gonadal mosaicism;Clinical Dysmorphology;2023-08-10

2. Retrospective diagnosis by parental testing in the next generation sequencing era and utility of reanalysis of exome data;Prenatal Diagnosis;2023-04-03

3. PhenoScore: AI-based phenomics to quantify rare disease and genetic variation;2022-10-26

4. A systematic review of brain MRI findings in monogenic disorders strongly associated with autism spectrum disorder;Journal of Child Psychology and Psychiatry;2021-08-23

5. A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria;Genes;2021-08-20

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