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Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.
Wang, Zheng; Iida, Aritoshi; Miyake, Noriko; Nishiguchi, Koji M; Fujita, Kosuke; Nakazawa, Toru; Alswaid, Abdulrahman; Albalwi, Mohammed A; Kim, Ok-Hwa; Cho, Tae-Joon; Lim, Gye-Yeon; Isidor, Bertrand; David, Albert; Rustad, Cecilie F; Merckoll, Else; Westvik, Jostein; Stattin, Eva-Lena; Grigelioniene, Giedre; Kou, Ikuyo; Nakajima, Masahiro; Ohashi, Hirohumi; Smithson, Sarah; Matsumoto, Naomichi; Nishimura, Gen; Ikegawa, Shiro.
Afiliación
  • Wang Z; Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, 108-8639, Japan.
  • Iida A; McKusick-Zhang Center for Genetic Medicine and State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100005, China.
  • Miyake N; Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, 108-8639, Japan.
  • Nishiguchi KM; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.
  • Fujita K; Department of Advanced Ophthalmic Medicine, Tohoku University Graduate School of Medicine, Sendai, 980-8574, Japan.
  • Nakazawa T; Department of Retinal Disease Control, Tohoku University Graduate School of Medicine, Sendai, 980-8574, Japan.
  • Alswaid A; Department of Advanced Ophthalmic Medicine, Tohoku University Graduate School of Medicine, Sendai, 980-8574, Japan.
  • Albalwi MA; Department of Retinal Disease Control, Tohoku University Graduate School of Medicine, Sendai, 980-8574, Japan.
  • Kim OH; Department of Opthalmology, Tohoku University Graduate School of Medicine, Sendai, 980-8574, Japan.
  • Cho TJ; Department of Pediatrics, King Abdulaziz Medical City for National Guard Health Affairs, Riyadh, 22490, Saudi Arabia.
  • Lim GY; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, 22490, Saudi Arabia.
  • Isidor B; Department of Radiology, Woorisoa Children's Hospital, Seoul, 08291, Republic of Korea.
  • David A; Department of Orthopaedic Surgery, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea.
  • Rustad CF; Department of Radiology, St. Mary's Hospital, The Catholic University, Seoul, 07345, Republic of Korea.
  • Merckoll E; CHU Nantes, Service de Génétique Médicale and INSERM, UMR-S 957, Nantes, 44093, France.
  • Westvik J; CHU Nantes, Service de Génétique Médicale and INSERM, UMR-S 957, Nantes, 44093, France.
  • Stattin EL; Department of Medical Genetics, Section for Clinical Genetics, Oslo University Hospital, Oslo, 0424, Norway.
  • Grigelioniene G; Department of Radiology, Oslo University Hospital, Oslo, 0424, Norway.
  • Kou I; Department of Radiology, Oslo University Hospital, Oslo, 0424, Norway.
  • Nakajima M; Department of Medical Biosciences, Medical and Clinical Genetics, Umeå University, Umeå, 90187, Sweden.
  • Ohashi H; Department of Clinical Genetics and Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital, Stockholm, 17176, Sweden.
  • Smithson S; Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, 108-8639, Japan.
  • Matsumoto N; Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, 108-8639, Japan.
  • Nishimura G; Division of Medical Genetics, Saitama Children's Medical Center, Saitama, 339-8551, Japan.
  • Ikegawa S; Department of Clinical Genetics, St. Michaels Hospital, Bristol, BS2 8EG, United Kingdom.
PLoS One ; 11(3): e0150555, 2016.
Article en En | MEDLINE | ID: mdl-26974433
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Proteínas / Enfermedades Genéticas Congénitas / Mutación Tipo de estudio: Diagnostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: PLoS One Asunto de la revista: CIENCIA / MEDICINA Año: 2016 Tipo del documento: Article País de afiliación: Japón
Texto completo
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PubMed Links
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Proteínas / Enfermedades Genéticas Congénitas / Mutación Tipo de estudio: Diagnostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: PLoS One Asunto de la revista: CIENCIA / MEDICINA Año: 2016 Tipo del documento: Article País de afiliación: Japón