A novel silent mutation in the NSDHL gene causing CHILD syndrome as a result of aberrant splicing

M. Saito, A. Ishiko

Research output: Contribution to journalArticle

9 Citations (Scopus)
Original languageEnglish
Pages (from-to)1204-1206
Number of pages3
JournalBritish Journal of Dermatology
Volume159
Issue number5
DOIs
Publication statusPublished - 2008 Nov 1

Keywords

  • Aberrant splicing
  • Congenital hemidysplasia with ichthyosiform naevus and limb defects
  • NSDHL
  • X-chromosome inactivation

ASJC Scopus subject areas

  • Dermatology

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