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Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations.
Salian, Smrithi; Cho, Tae-Joon; Phadke, Shubha R; Gowrishankar, Kalpana; Bhavani, Gandham SriLakshmi; Shukla, Anju; Jagadeesh, Sujatha; Kim, Ok-Hwa; Nishimura, Gen; Girisha, Katta M.
Afiliação
  • Salian S; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
  • Cho TJ; Division of Pediatric Orthopedics, Seoul National University Children's Hospital, Seoul, Korea.
  • Phadke SR; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
  • Gowrishankar K; Department of Medical Genetics, Apollo Children's Hospital, Chennai, Tamilnadu, India.
  • Bhavani GS; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
  • Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
  • Jagadeesh S; Mediscan Systems, Chennai, India.
  • Kim OH; Department of Radiology, Woorisoa Children's Hospital, Seoul, Korea.
  • Nishimura G; Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
  • Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
Am J Med Genet A ; 173(3): 588-595, 2017 Mar.
Article em En | MEDLINE | ID: mdl-28127940
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Proteínas rab de Ligação ao GTP / Mutação Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Proteínas rab de Ligação ao GTP / Mutação Idioma: En Ano de publicação: 2017 Tipo de documento: Article