A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2

Mami Fukuma, Masaki Takagi, Tomoyuki Shimazu, Hoseki Imamura, Hiroko Yagi, Gen Nishimura, Tomonobu Hasegawa

Research output: Contribution to journalComment/debate

3 Citations (Scopus)
Original languageEnglish
Pages (from-to)193-196
Number of pages4
Journalclinical pediatric endocrinology
Volume27
Issue number3
DOIs
Publication statusPublished - 2018

Keywords

  • Mutation
  • Spondyloepiphyseal dysplasia tarda
  • TRAPPC2

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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