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Novel and recurrent mutations in WISP3 and an atypical phenotype.
Bhavani, Gandham SriLakshmi; Shah, Hitesh; Dalal, Ashwin B; Shukla, Anju; Danda, Sumita; Aggarwal, Shagun; Phadke, Shubha R; Gupta, Neerja; Kabra, Madhulika; Gowrishankar, Kalpana; Gupta, Anju; Bhat, Meenakshi; Puri, Ratna D; Bijarnia-Mahay, Sunita; Nampoothiri, Sheela; Mohanasundaram, Kavitha M; Rajeswari, S; Kulkarni, Akhil M; Kulkarni, Muralidhar L; Ranganath, Prajnya; Ramadevi, A Radha; Hariharan, Sankar V; Girisha, Katta Mohan.
Afiliação
  • Bhavani GS; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
  • Shah H; Department of Orthopedics, Pediatric Orthopedics Services, Kasturba Medical College, Manipal University, Manipal, India.
  • Dalal AB; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
  • Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
  • Danda S; Department of Clinical Genetics, Christian Medical College and Hospital, Vellore, India.
  • Aggarwal S; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India.
  • Phadke SR; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
  • Gupta N; Department of Pediatrics, Division of Genetics, All India Institute of Medical Science, New Delhi, India.
  • Kabra M; Department of Pediatrics, Division of Genetics, All India Institute of Medical Science, New Delhi, India.
  • Gowrishankar K; Department of Medical Genetics, Kanchi Kamakoti Childs Trust Hospital, Chennai, Tamil Nadu, India.
  • Gupta A; Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
  • Bhat M; Centre for Human Genetics, Bangalore, India.
  • Puri RD; Centre of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India.
  • Bijarnia-Mahay S; Centre of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India.
  • Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Ponekkara, Cochin, Kerala, India.
  • Mohanasundaram KM; Department of Rheumatology, Madras Medical College, Chennai, India.
  • Rajeswari S; Department of Rheumatology, Madras Medical College, Chennai, India.
  • Kulkarni AM; Department of Radiodiagnosis, SS Institute of Medical Sciences and Research Centre, Davangere, India.
  • Kulkarni ML; Department of Pediatrics, Jagadguru Jayadeva Murugarajendra Medical College, Davangere, India.
  • Ranganath P; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
  • Ramadevi AR; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India.
  • Hariharan SV; Department of Clinical Genetics, Genetics Unit, Rainbow Children Hospital, Hyderabad, India.
  • Girisha KM; Department of Pediatrics, Sree Avittom Thirunal Hospital, Government Medical College, Trivandrum, India.
Am J Med Genet A ; 167A(10): 2481-4, 2015 Oct.
Article em En | MEDLINE | ID: mdl-25988854
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cartilagem Articular / Proteínas de Sinalização Intercelular CCN / Artropatias / Mutação Limite: Adolescent / Adult / Female / Humans / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cartilagem Articular / Proteínas de Sinalização Intercelular CCN / Artropatias / Mutação Limite: Adolescent / Adult / Female / Humans / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2015 Tipo de documento: Article