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Loeys Dietz Aortic Aneurysm Syndrome(LDS1)

MedGen UID:
324564
Concept ID:
C1836635
Disease or Syndrome
Synonyms: Loeys Dietz Syndrome, Type 1a; Loeys-Dietz Aortic Aneurysm Syndrome; Loeys-Dietz Syndrome, Type 1a
 
OMIM®: 190181; 609192

Definition

Loeys-Dietz Syndrome with aortic aneurysm or dissection. [from MeSH]

Recent clinical studies

Etiology

Singh KK, Rommel K, Mishra A, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M
Hum Mutat 2006 Aug;27(8):770-7. doi: 10.1002/humu.20354. PMID: 16799921
Mátyás G, Arnold E, Carrel T, Baumgartner D, Boileau C, Berger W, Steinmann B
Hum Mutat 2006 Aug;27(8):760-9. doi: 10.1002/humu.20353. PMID: 16791849

Diagnosis

Singh KK, Rommel K, Mishra A, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M
Hum Mutat 2006 Aug;27(8):770-7. doi: 10.1002/humu.20354. PMID: 16799921
Mátyás G, Arnold E, Carrel T, Baumgartner D, Boileau C, Berger W, Steinmann B
Hum Mutat 2006 Aug;27(8):760-9. doi: 10.1002/humu.20353. PMID: 16791849

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