Recurrence of ARID1B-related Coffin-Siris Syndrome by possible gonadal mosaicism-Reference-Cited by-同舟云学术

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Recurrence of ARID1B-related Coffin-Siris Syndrome by possible gonadal mosaicism

Published:2023-08-10 Issue:4 Volume:32 Page:180-183
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Uctepe Eyyup¹,Erguner Bekir²,Sonmez Fatma Mujgan³⁴

Affiliation:

1. Acibadem Ankara Tissue Typing Laboratory, Ankara

2. Department of Molecular Biology, Genetics and Bioengineering, Sabanci University, Tuzla, Istanbul

3. Department of Child Neurology, Karadeniz Technical University Faculty of Medicine, Retired Lecturer, Trabzon, Turkey

4. Private office, Child Neurology, Trabzon, Turkey

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health

Reference15 articles.

1. Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.;Ben-Salem;Am J Med Genet A,2016

2. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3.;Cingolani;Fly (Austin),2012

3. A framework for variation discovery and genotyping using next-generation DNA sequencing data.;DePristo;Nat Genet,2011

4. Coffin-Siris Syndrome: review and presentation of new cases from a questionnaire study.;Fleck;Am J Med Genet,2001

5. ATP-dependent chromatin remodeling: genetics, genomics and mechanisms.;Hargreaves;Cell Res,2011

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