Two <i>SOX11</i> variants cause <scp>Coffin–Siris</scp> syndrome with a new feature of sensorineural hearing loss-Reference-Cited by-同舟云学术

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Two SOX11 variants cause Coffin–Siris syndrome with a new feature of sensorineural hearing loss

Published:2022-11-11 Issue:1 Volume:191 Page:183-189
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Wang Qiuquan¹²³⁴^ORCID,Wu Jie¹²³⁴,Yang Jinyuan¹²³⁴,Huang Shasha¹²³⁴,Yuan Yongyi¹²³⁴,Dai Pu¹²³⁴

Affiliation:

1. College of Otolaryngology Head and Neck Surgery Chinese PLA General Hospital, Chinese PLA Medical School Beijing China

2. National Clinical Research Center for Otolaryngologic Diseases Beijing China

3. State Key Lab of Hearing Science, Ministry of Education Beijing China

4. Beijing Key Lab of hearing loss Prevention and Treatment Beijing China

Funder

National Institute on Deafness and Other Communication Disorders

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63011

Reference31 articles.

1. Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype

2. The role of Math1 in inner ear development: Uncoupling the establishment of the sensory primordium from hair cell fate determination

3. Mental retardation with absent fifth fingernail and terminal phalanx;Coffin G. S.;American Journal of Diseases of Children,1970

4. Nucleosome-bound SOX2 and SOX11 structures elucidate pioneer factor function

5. The three SoxC proteins—Sox4, Sox11 and Sox12—exhibit overlapping expression patterns and molecular properties

Cited by 2 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. Identification of a novel phenotype of external ear deformity related to Coffin–Siris syndrome‐9 and literature review;American Journal of Medical Genetics Part A;2024-04-09

2. Pathogenic variants in SOX11 mimicking Pitt‐Hopkins syndrome phenotype;Clinical Genetics;2023-08-09

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