Novel and recurrent mutations in WISP3 and an atypical phenotype

doi:10.1002/ajmg.a.37164

. 2015 Oct;167A(10):2481-4.

doi: 10.1002/ajmg.a.37164. Epub 2015 May 18.

Novel and recurrent mutations in WISP3 and an atypical phenotype

Gandham SriLakshmi Bhavani¹, Hitesh Shah², Ashwin B Dalal³, Anju Shukla¹, Sumita Danda⁴, Shagun Aggarwal⁵, Shubha R Phadke⁶, Neerja Gupta⁷, Madhulika Kabra⁷, Kalpana Gowrishankar⁸, Anju Gupta⁹, Meenakshi Bhat¹⁰, Ratna D Puri¹¹, Sunita Bijarnia-Mahay¹¹, Sheela Nampoothiri¹², Kavitha M Mohanasundaram¹³, S Rajeswari¹³, Akhil M Kulkarni¹⁴, Muralidhar L Kulkarni¹⁵, Prajnya Ranganath^{3

5}, A Radha Ramadevi¹⁶, Sankar V Hariharan¹⁷, Katta Mohan Girisha¹

Affiliations

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.

PMID: 25988854
DOI: 10.1002/ajmg.a.37164

Novel and recurrent mutations in WISP3 and an atypical phenotype

Gandham SriLakshmi Bhavani et al. Am J Med Genet A. 2015 Oct.

. 2015 Oct;167A(10):2481-4.

doi: 10.1002/ajmg.a.37164. Epub 2015 May 18.

Authors

Affiliations

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.

PMID: 25988854
DOI: 10.1002/ajmg.a.37164

No abstract available

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Novel and recurrent mutations in WISP3 and an atypical phenotype

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Novel and recurrent mutations in WISP3 and an atypical phenotype

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