TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect-Reference-Cited by-同舟云学术

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TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect

Published:2019-07-15 Issue:1 Volume:14 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Fan Xinmiao,Wang Yibei,Fan Yue,Du Huiqian,Luo Nana,Zhang Shuyang,Chen Xiaowei

Funder

The General Programs of National Natural Science Foundation of China

The National Natural Emergency management project

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-019-1136-z.pdf

Reference30 articles.

1. Trainor PA, Andrews BT. Facial dysostoses: etiology, pathogenesis and management. Am J Med Genet C Semin Med Genet. 2013;163c(4):283–94.

2. Zhang X, Fan Y, Zhang Y, Xue H, Chen X. A novel mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome. Int J Pediatr Otorhinolaryngol. 2013;77(9):1410–5.

3. Vincent M, Genevieve D. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. Genet Med. 2016;18(1):49–56.

4. Teber OA, Gillessen-Kaesbach G, Fischer S, Bohringer S, Albrecht B, Albert A, Arslan-Kirchner M, Haan E, Hagedorn-Greiwe M, Hammans C, et al. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Eur J Hum Genet. 2004;12(11):879–90.

5. Splendore A, Silva EO, Alonso LG, Richieri-Costa A, Alonso N, Rosa A, Carakushanky G, Cavalcanti DP, Brunoni D, Passos-Bueno MR. High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. Hum Mutat. 2000;16(4):315–22.

Cited by 16 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. Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome;Molecular Genetics & Genomic Medicine;2024-03

2. Systematic Review of Current Audiological Treatment Options for Patients with Treacher Collins Syndrome (TCS) and Surgical and Audiological Experiences of an Otorhinolaryngologist with TCS;Journal of Personalized Medicine;2024-01-10

3. Airway Challenges in a Child with Treacher Collins Syndrome having Ventricular Septal Defect, Oculofacial Malformations and Oesophageal Atresia: A Case Report;JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH;2024

4. A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments;Journal of Community Genetics;2023-10-10

5. A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity;Clinical Genetics;2022-10-17

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