换一批
第一作者：
Velchev, Joe D.
作者：
关键词
Loeys-Dietz syndromeHypertelorismBifid uvula/cleft palateCraniosynostosisDilatation of aortic rootAortic aneurysm with tortuosityAortic dissectionMutations in TGFBR1TGFBR2SMAD3 or TGFB2Increased TGF ss signallingOverlap with Marfan and Ehlers-Danlos syndromePectus excavatum or pectus carinatumScoliosisJoint laxityArachnodactylyTalipes equinovarusCervical spine malformationSpondylolisthesisAcetabular protrusionPes planusOsteoporosisRetrognathiaStrabismusBlue scleraeMyopiaAmblyopiaTranslucent skinEasy bruisingDystrophic scarsSpontaneous bowel rupturePeripartal uterine ruptureAneurysmosteoarthritis syndromeMutations in SKIShprintzen-Goldberg syndromeCutis laxaFamilial thoracic aortic aneurysmMutations in ACTA2MYH11 and MYLKTHORACIC AORTIC-ANEURYSMSEHLE
发布时间
2022-10-29
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