Gene analysis: A rare gene disease of intellectual deficiency‐Cohen syndrome-Reference-Cited by-同舟云学术

Gene analysis: A rare gene disease of intellectual deficiency‐Cohen syndrome

Published:2018-05-24 Issue:1 Volume:68 Page:83-88
ISSN:0736-5748
Container-title:International Journal of Developmental Neuroscience
language:en
Short-container-title:Int. j. dev. neurosci.

Author:

Yang Chengqing¹,Hou Mei²,Li Yutang²,Sun Dianrong²,Guo Ya¹,Liu Peipei¹,Liu Yedan¹,Song Jie¹,Zhang Na¹,Wei Wei³,Chen Zongbo¹

Affiliation:

1. Pediatric Department of the Affiliated Hospital of Qingdao UniversityNo. 16 Jiangsu RoadShandong266000PR China

2. Pediatric Department of the Qingdao Women & Children HospitalNo. 6 Tongfu RoadShandong266000PR China

3. Kangso Medical Inspection Co., LtdNo.65 Haidian District, Xingshikou Road Yiyuan Cultural Creative Industry Base C District No. 10, Floor 2, 201‐203Beijing100195PR China

Funder

Kangxu medical laboratory

Publisher

Wiley

Subject

Developmental Biology,Developmental Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1016/j.ijdevneu.2018.05.004

Reference19 articles.

1. A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies

2. Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features;Mehryar Taban M.D.;J. Aapos.,2007

3. Idiopathic pulmonary arterial hypertension in a young patient with the Cohensyndrome;Cokkinos P.;Hellenic J. Cardiol.,2013

4. Cohen syndrome with insulin resistance and seizure;Atabek M.E.;Pediatr. Neurol.,2004

5. Rearrangement of VPS13B, a causative gene of Cohen syndrome, in a case of RUNX1‐RUNX1T1 leukemia with t(8;12;21);Abe A.;Int. J. Hematol.,2017

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2. Deletion as novel variants in VPS13B gene in Cohen syndrome: Case series;Translational Neuroscience;2023-01-01

3. Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome;Scientific Reports;2022-06-11

4. Cohen syndrome due to a novel VPS13B mutation in a Chinese family;Journal of Neurorestoratology;2022-06

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