Familial spontaneous pneumothorax is not linked to FBN-1, the defective gene in the Marfan syndrome.
Background: Primary spontaneous pneumothorax (PSP) is common and associated with a tall thin body habitus similar to that of the Marfan syndrome. Its aetiology is unknown and most cases are isolated. A small proportion are familial, with 59 reported pedigrees, which are mostly autosomal dominant (as...
المؤلفون الرئيسيون: | Maskell, N, Cardy, C, Handford, P, Morrison, P, Arnold, A, Davies, R |
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التنسيق: | Journal article |
اللغة: | English |
منشور في: |
2000
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مواد مشابهة
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Familial spontaneous pneumothorax and FBN1 mutations.
حسب: Cardy, C, وآخرون
منشور في: (2004) -
Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice.
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منشور في: (2002) -
Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?
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Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?
حسب: Hutchinson, S, وآخرون
منشور في: (2003) -
Multi-exon deletions of the <it>FBN1</it> gene in Marfan syndrome
حسب: Schrijver Iris, وآخرون
منشور في: (2001-10-01)