FBN1
fibrillin 1
Ассоциированные заболевания
Герминативная мутация (причина)9
Isolated ectopia lentisORPHA:1885
→Acromicric dysplasiaORPHA:969
→Geleophysic dysplasiaORPHA:2623
→Stiff skin syndromeORPHA:2833
→Weill-Marchesani syndromeORPHA:3449
→Marfan syndrome type 1ORPHA:284963
→Neonatal Marfan syndromeORPHA:284979
→Progeroid and marfanoid aspect-lipodystrophy syndromeORPHA:300382
→Familial thoracic aortic aneurysm and aortic dissectionORPHA:91387
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