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Marfan syndrome type 1(MFS1)

MedGen UID:
1661248
•Concept ID:
C4721845
•
Disease or Syndrome
Synonyms: Marfan Syndrome Type 1; Marfan Syndrome, Type I
SNOMED CT: Marfan syndrome type 1 (1003407000)
 
OMIM®: 154700

Professional guidelines

PubMed

Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1].
Arslan-Kirchner M, Arbustini E, Boileau C, Child A, Collod-Beroud G, De Paepe A, Epplen J, Jondeau G, Loeys B, Faivre L
Eur J Hum Genet 2010 Sep;18(9) Epub 2010 Apr 7 doi: 10.1038/ejhg.2010.42. PMID: 20372188Free PMC Article

Recent clinical studies

Diagnosis

Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1].
Arslan-Kirchner M, Arbustini E, Boileau C, Child A, Collod-Beroud G, De Paepe A, Epplen J, Jondeau G, Loeys B, Faivre L
Eur J Hum Genet 2010 Sep;18(9) Epub 2010 Apr 7 doi: 10.1038/ejhg.2010.42. PMID: 20372188Free PMC Article
Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations.
Söylen B, Singh KK, Abuzainin A, Rommel K, Becker H, Arslan-Kirchner M, Schmidtke J
Clin Genet 2009 Mar;75(3):265-70. Epub 2009 Jan 20 doi: 10.1111/j.1399-0004.2008.01126.x. PMID: 19159394

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