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

1 Citation (Scopus)
Original languageEnglish
Pages (from-to)193-196
Number of pages4
JournalClinical Pediatric Endocrinology
Volume27
Issue number3
DOIs
Publication statusPublished - 2018 Jan 1

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Mutation
Spondyloperipheral dysplasia short ulna

Keywords

  • Mutation
  • Spondyloepiphyseal dysplasia tarda
  • TRAPPC2

ASJC Scopus subject areas

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

Cite this

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.

In: Clinical Pediatric Endocrinology, Vol. 27, No. 3, 01.01.2018, p. 193-196.

Research output: Contribution to journalComment/debate

Fukuma, Mami ; Takagi, Masaki ; Shimazu, Tomoyuki ; Imamura, Hoseki ; Yagi, Hiroko ; Nishimura, Gen ; Hasegawa, Tomonobu. / A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2. In: Clinical Pediatric Endocrinology. 2018 ; Vol. 27, No. 3. pp. 193-196.
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