Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C

Masaki Takagi, Saori Kaneko-Schmitt, Nobuhiro Suzumori, Gen Nishimura, Tomonobu Hasegawa

Research output: Contribution to journalLetter

3 Citations (Scopus)
Original languageEnglish
Pages (from-to)247-250
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number1
DOIs
Publication statusPublished - 2012 Jan 1

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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