De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy

Research output: Contribution to journalLetterpeer-review

12 Scopus citations
Original languageEnglish (US)
Pages (from-to)1341-1345
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume164
Issue number5
DOIs
StatePublished - May 2014

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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