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A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2.
Fukuma, Mami; Takagi, Masaki; Shimazu, Tomoyuki; Imamura, Hoseki; Yagi, Hiroko; Nishimura, Gen; Hasegawa, Tomonobu.
Affiliation
  • Fukuma M; Department of Pediatrics, Kumamoto Saishunso National Hospital, Kumamoto, Japan.
  • Takagi M; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
  • Shimazu T; Department of Pediatrics, Kumamoto Saishunso National Hospital, Kumamoto, Japan.
  • Imamura H; Department of Pediatrics, Kumamoto Saishunso National Hospital, Kumamoto, Japan.
  • Yagi H; Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
  • Nishimura G; Department of Pediatrics, Hirosaki University Graduate School of Medicine, Aomori, Japan.
  • Hasegawa T; Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan.
Clin Pediatr Endocrinol ; 27(3): 193-196, 2018.
Article in En | MEDLINE | ID: mdl-30083037
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Clin Pediatr Endocrinol Year: 2018 Document type: Article Affiliation country: Japan
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Clin Pediatr Endocrinol Year: 2018 Document type: Article Affiliation country: Japan