Novel and recurrent mutations in WISP3 and an atypical phenotype-Reference-Cited by-同舟云学术

Novel and recurrent mutations in WISP3 and an atypical phenotype

Published:2015-05-18 Issue:10 Volume:167 Page:2481-2484
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Bhavani Gandham SriLakshmi¹,Shah Hitesh²,Dalal Ashwin B.³,Shukla Anju¹,Danda Sumita⁴,Aggarwal Shagun⁵,Phadke Shubha R.⁶,Gupta Neerja⁷,Kabra Madhulika⁷,Gowrishankar Kalpana⁸,Gupta Anju⁹,Bhat Meenakshi¹⁰,Puri Ratna D.¹¹,Bijarnia-Mahay Sunita¹¹,Nampoothiri Sheela¹²,Mohanasundaram Kavitha M.¹³,Rajeswari S.¹³,Kulkarni Akhil M.¹⁴,Kulkarni Muralidhar L.¹⁵,Ranganath Prajnya³⁵,Ramadevi A. Radha¹⁶,Hariharan Sankar V.¹⁷,Girisha Katta Mohan¹

Affiliation:

1. Department of Medical Genetics; Kasturba Medical College; Manipal University; Manipal India

2. Department of Orthopedics; Pediatric Orthopedics Services; Kasturba Medical College; Manipal University; Manipal India

3. Diagnostics Division; Centre for DNA Fingerprinting and Diagnostics; Hyderabad India

4. Department of Clinical Genetics; Christian Medical College and Hospital; Vellore India

5. Department of Medical Genetics; Nizam's Institute of Medical Sciences; Hyderabad India

6. Department of Medical Genetics; Sanjay Gandhi Postgraduate Institute of Medical Sciences; Lucknow India

7. Department of Pediatrics; Division of Genetics; All India Institute of Medical Science; New Delhi India

8. Department of Medical Genetics; Kanchi Kamakoti Childs Trust Hospital; Chennai Tamil Nadu India

9. Department of Pediatrics; Post Graduate Institute of Medical Education and Research; Chandigarh India

10. Centre for Human Genetics; Bangalore India

11. Centre of Medical Genetics; Sir Ganga Ram Hospital; New Delhi India

12. Department of Pediatric Genetics; Amrita Institute of Medical Sciences and Research Centre; Ponekkara; Cochin Kerala India

13. Department of Rheumatology; Madras Medical College; Chennai India

14. Department of Radiodiagnosis; SS Institute of Medical Sciences and Research Centre; Davangere India

15. Department of Pediatrics; Jagadguru Jayadeva Murugarajendra Medical College; Davangere India

16. Department of Clinical Genetics; Genetics Unit; Rainbow Children Hospital Hyderabad India

17. Department of Pediatrics; Sree Avittom Thirunal Hospital; Government Medical College Trivandrum India

Funder

Indian council of Medical Research

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37164/fullpdf

Reference8 articles.

1. Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia;Dalal;Am J Med Genet A,2012

2. Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: Identification of two novel mutations, and description of a founder effect;Delague;Am J Med Genet A,2005

3. The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals;Garcia Segarra;Am J Med Genet C Semin Med Genet,2012

4. The CCN family of proteins: Structure-function relationships;Holbourn;Trends Biochem Sci,2008

5. Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia;Hurvitz;Nat Genet,1999

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