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De novo heterozygous variants in KIF5B cause kyphomelic dysplasia.
Itai, Toshiyuki; Wang, Zheng; Nishimura, Gen; Ohashi, Hirofumi; Guo, Long; Wakano, Yasuhiro; Sugiura, Takahiro; Hayakawa, Hiromi; Okada, Mayumi; Saisu, Takashi; Kitta, Ayana; Doi, Hiroshi; Kurosawa, Kenji; Hotta, Yoshihiro; Hosono, Katsuhiro; Sato, Miho; Shimizu, Kenji; Takikawa, Kazuharu; Watanabe, Seiji; Ikeda, Naho; Suzuki, Mitsuyoshi; Fujita, Atsushi; Uchiyama, Yuri; Tsuchida, Naomi; Miyatake, Satoko; Miyake, Noriko; Matsumoto, Naomichi; Ikegawa, Shiro.
Afiliação
  • Itai T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Wang Z; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
  • Nishimura G; Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan.
  • Ohashi H; Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.
  • Guo L; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
  • Wakano Y; Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Japan.
  • Sugiura T; Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Japan.
  • Hayakawa H; Department of Obstetrics, Aichi Children's Health and Medical Center, Obu, Japan.
  • Okada M; Department of Obstetrics and Gynecology, Genome Medical Center, Toyohashi Municipal Hospital, Toyohashi, Japan.
  • Saisu T; Department of Pediatric Orthopaedics, Chiba Child & Adult Orthopaedic Clinic, Chiba, Japan.
  • Kitta A; Department of Orthopedic Surgery, Tokyo Women's Medical University, Yachiyo Medical Center, Chiba, Japan.
  • Doi H; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Kurosawa K; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Hotta Y; Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Hosono K; Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Sato M; Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Shimizu K; Division of Clinical Genetics and Cytogenetics, Shizuoka Children's Hospital, Shizuoka, Japan.
  • Takikawa K; Department of Pediatric Orthopedics, Shizuoka Children's Hospital, Shizuoka, Japan.
  • Watanabe S; Department of Pediatrics, Izu Medical and Welfare Center, Izunokuni, Japan.
  • Ikeda N; Department of Neonatology, Juntendo University Shizuoka Hospital, Shizuoka, Japan.
  • Suzuki M; Department of Pediatrics, Juntendo University Faculty of Medicine, Tokyo, Japan.
  • Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Tsuchida N; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.
  • Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Miyake N; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Ikegawa S; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan.
Clin Genet ; 102(1): 3-11, 2022 07.
Article em En | MEDLINE | ID: mdl-35342932
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Anormalidades Múltiplas / Doenças do Desenvolvimento Ósseo / Cinesinas / Nanismo Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Newborn Idioma: En Revista: Clin Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Japão
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Anormalidades Múltiplas / Doenças do Desenvolvimento Ósseo / Cinesinas / Nanismo Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Newborn Idioma: En Revista: Clin Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Japão