Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome-Reference-Cited by-同舟云学术

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Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome

Published:2012-08-10 Issue:10 Volume:158A Page:2621-2623
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Takenouchi Toshiki,Yagihashi Tatsuhiko,Tsuchiya Hiroyuki,Torii Chiharu,Hayashi Kumiko,Kosaki Rika,Saitoh Shinji,Takahashi Takao,Kosaki Kenjiro

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35230/fullpdf

Reference16 articles.

1. Detection of low-level mosaicism by array CGH in routine diagnostic specimens;Ballif;Am J Med Genet Part A,2006

2. Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion;Brewer;J Med Genet,1998

3. Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4;Brockschmidt;Hum Mol Genet,2007

4. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics;Cheung;Am J Med Genet Part A,2007

5. TCF4 deletions in Pitt-Hopkins Syndrome;Giurgea;Hum Mutat,2008

Cited by 8 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. Epilepsy, electroclinical features, and long‐term outcomes in Pitt–Hopkins syndrome due to pathogenic variants in the TCF4 gene;European Journal of Neurology;2021-10-07

2. Mosaic ring chromosome 18 in a Chinese child with epilepsy: a case report and review of the literature;Neurological Sciences;2021-04-08

3. A Case of Ring Chromosome 18 with Single Umbilical Artery Detected During Prenatal Period;Molecular Syndromology;2020

4. Pitt–Hopkins syndrome with electrical stat us epileptic us in slo w-wave sleep: a case report;Russian Journal of Child Neurology;2019-07-28

5. Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement;Clinical Genetics;2019-02-18

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