Novel de novo interstitial deletion in 2q36.1q36.3 causes syndromic hearing loss and further delineation of the 2q36 deletion syndrome-Reference-Cited by-同舟云学术

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Novel de novo interstitial deletion in 2q36.1q36.3 causes syndromic hearing loss and further delineation of the 2q36 deletion syndrome

Published:2019-08-12 Issue:10 Volume:139 Page:870-875
ISSN:0001-6489
Container-title:Acta Oto-Laryngologica
language:en
Short-container-title:Acta Oto-Laryngologica

Author:

Guan Jing¹,Yin Linwei¹,Wang Hongyang¹,Chen Guohui¹,Zhao Cui¹,Wang Dayong¹,Wang Qiu-Ju¹

Affiliation:

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

Publisher

Informa UK Limited

Subject

Otorhinolaryngology,General Medicine

Link

https://www.tandfonline.com/doi/pdf/10.1080/00016489.2019.1592219

Reference17 articles.

1. De novo 2q36.1q36.3 interstitial deletion involving thePAX3andEPHA4genes in a fetus with spina bifida and cleft palate

2. Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardation

3. A familial case with interstitial 2q36 deletion: Variable phenotypic expression in full and mosaic state

4. Deletion 2q: two new cases with karyotypes 46,XY,del(2)(q31q33) and 46,XX,del(2)(q36).

5. Genetic analysis ofPAX3for diagnosis of Waardenburg syndrome type I

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