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The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported.
Fukuhara, Yasuyuki; Cho, Sung Y; Miyazaki, Osamu; Hattori, Atsushi; Seo, Joo-Hyun; Mashima, Ryuichi; Kosuga, Motomichi; Fukami, Maki; Jin, Dong-Kyu; Okuyama, Torayuki; Nishimura, Gen.
Afiliación
  • Fukuhara Y; Division of Medical Genetics.
  • Cho SY; Department of Pediatrics, Sungkyunkwan University School of Medicine, Samsung Medical Center, Seoul, Republic of Korea.
  • Miyazaki O; Radiology.
  • Hattori A; Molecular Endocrinology, National Center for Child Health and Development, Tokyo.
  • Seo JH; Center for Lysosomal Storage Diseases.
  • Mashima R; Departments of Clinical Laboratory Medicine.
  • Kosuga M; Division of Medical Genetics.
  • Fukami M; Center for Lysosomal Storage Diseases.
  • Jin DK; Departments of Clinical Laboratory Medicine.
  • Okuyama T; Molecular Endocrinology, National Center for Child Health and Development, Tokyo.
  • Nishimura G; Department of Pediatrics, Sungkyunkwan University School of Medicine, Samsung Medical Center, Seoul, Republic of Korea.
Clin Dysmorphol ; 28(1): 26-29, 2019 Jan.
Article en En | MEDLINE | ID: mdl-30124491

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades del Desarrollo Óseo / Anomalías Craneofaciales / Agrecanos Límite: Humans / Male / Middle aged Idioma: En Revista: Clin Dysmorphol Asunto de la revista: TERATOLOGIA Año: 2019 Tipo del documento: Article

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades del Desarrollo Óseo / Anomalías Craneofaciales / Agrecanos Límite: Humans / Male / Middle aged Idioma: En Revista: Clin Dysmorphol Asunto de la revista: TERATOLOGIA Año: 2019 Tipo del documento: Article