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. 2023 Oct 1;32(4):180-183.

doi: 10.1097/MCD.0000000000000473. Epub 2023 Aug 10.

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

Eyyup Uctepe¹, Bekir Erguner², Fatma Mujgan Sonmez^{3

4}

Affiliations

Affiliations

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.

PMID: 37646735
DOI: 10.1097/MCD.0000000000000473

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

Eyyup Uctepe et al. Clin Dysmorphol. 2023.

. 2023 Oct 1;32(4):180-183.

doi: 10.1097/MCD.0000000000000473. Epub 2023 Aug 10.

Authors

Eyyup Uctepe¹, Bekir Erguner², Fatma Mujgan Sonmez^{3

4}

Affiliations

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.

PMID: 37646735
DOI: 10.1097/MCD.0000000000000473

No abstract available

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References

1. Ben-Salem S, Sobreira N, Akawi NA, Al-Shamsi AM, John A, Pramathan T, et al. (2016). Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings. Am J Med Genet A 170A:156–161.
1. Cingolani P, Platts A, Wang L, Coon M, Nguyen T, Wang L, et al. (2012). 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. Fly (Austin) 6:80–92.
1. DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, et al. (2011). A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 43:491–498.
1. Fleck BJ, Pandya A, Vanner L, Kerkering K, Bodurtha J (2001). Coffin-Siris Syndrome: review and presentation of new cases from a questionnaire study. Am J Med Genet 99:1–7.
1. Hargreaves DC, Crabtree GR (2011). ATP-dependent chromatin remodeling: genetics, genomics and mechanisms. Cell Res 21:396–420.

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