Literature DB >> 23566664

A mutation in NOTCH2 gene in a Chinese patient with Hajdu-Cheney syndrome.

Jie-mei Gu1, Yun-qiu Hu, Hao Zhang, Chun Wang, Wei-wei Hu, Hua Yue, Yu-juan Liu, Zhen-lin Zhang.   

Abstract

Entities:  

Keywords:  Acro-osteolysis; Hajdu–Cheney syndrome; NOTCH2 mutation

Mesh：

Substances：

Year:  2013        PMID： 23566664     DOI： 10.1016/j.jbspin.2013.02.008

Source DB:  PubMed          Journal:  Joint Bone Spine        ISSN： 1297-319X            Impact factor:   4.929


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  4 in total

Review 1.  The ever-expanding conundrum of primary osteoporosis: aetiopathogenesis, diagnosis, and treatment.

Authors:  Stefano Stagi; Loredana Cavalli; Salvatore Seminara; Maurizio de Martino; Maria Luisa Brandi
Journal:  Ital J Pediatr       Date:  2014-06-07       Impact factor: 2.638

2.  Hajdu Cheney Syndrome due to NOTCH2 defect - First case report from Pakistan and review of literature.

Authors:  Sibtain Ahmed; Aahan Arif; Saadia Abbas; Muhammad Osama Khan; Salman Kirmani; Aysha Habib Khan
Journal:  Ann Med Surg (Lond)       Date:  2021-01-19

3.  Hajdu Cheney syndrome; A novel NOTCH2 mutation in a Syrian child, and treatment with zolidronic acid: A case report and a literature review of treatments.

Authors:  Afaf Ahmad; Haya Deeb; Diana Alasmar
Journal:  Ann Med Surg (Lond)       Date:  2021-11-03

Review 4.  Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review.

Authors:  Chunhua Zeng; Yunting Lin; Zhikun Lu; Zhen Chen; Xiaoling Jiang; Xiaojian Mao; Zongcai Liu; Xinshuo Lu; Kangdi Zhang; Qiaoli Yu; Xiaoya Wang; Yonglan Huang; Li Liu
Journal:  BMC Musculoskelet Disord       Date:  2020-03-06       Impact factor: 2.362
  4 in total

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