Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype

J. Hogue, C. Lee, Angie Jelin, Mn Strecker, Va Cox, Am Slavotinek

Research output: Contribution to journalArticle

Original languageEnglish (US)
Pages (from-to)392-393
Number of pages2
JournalClinical Genetics
Volume84
Issue number4
DOIs
StatePublished - Oct 2013
Externally publishedYes

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Microfilament Proteins
Marfan Syndrome
Homozygote
Missense Mutation
Alleles
Phenotype

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype. / Hogue, J.; Lee, C.; Jelin, Angie; Strecker, Mn; Cox, Va; Slavotinek, Am.

In: Clinical Genetics, Vol. 84, No. 4, 10.2013, p. 392-393.

Research output: Contribution to journalArticle

Hogue, J. ; Lee, C. ; Jelin, Angie ; Strecker, Mn ; Cox, Va ; Slavotinek, Am. / Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype. In: Clinical Genetics. 2013 ; Vol. 84, No. 4. pp. 392-393.
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