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Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall-Stickler syndrome spectrum.
Guo, Long; Elcioglu, Nursel H; Wang, Zheng; Demirkol, Yasemin K; Isguven, Pinar; Matsumoto, Naomichi; Nishimura, Gen; Miyake, Noriko; Ikegawa, Shiro.
Afiliação
  • Guo L; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
  • Elcioglu NH; Department of Pediatric Genetics, Marmara University Medical School, Istanbul, Turkey.
  • Wang Z; Eastern Mediterranean University Medical School, Mersin, Turkey.
  • Demirkol YK; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
  • Isguven P; Department of Medical Genetics, Institute of Basic Medical Sciences, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Matsumoto N; Department of Pediatric Genetics, Marmara University Medical School, Istanbul, Turkey.
  • Nishimura G; Department of Pediatric Endocrinology, Sakarya University Medical School, Sakarya, Turkey.
  • Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Ikegawa S; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
Hum Genome Var ; 4: 17040, 2017.
Article em En | MEDLINE | ID: mdl-28983407
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2017 Tipo de documento: Article