关键词: Aneurysm Aortic root dilatation Arterial tortuosity Arthrogryposis multiplex congenita Cleft palate Connective tissue disorder Loeys Dietz syndrome TGFBR2 gene
Mesh : Arthrogryposis / diagnosis genetics Female Humans Infant, Newborn Loeys-Dietz Syndrome / diagnosis genetics Mutation, Missense Protein Serine-Threonine Kinases / genetics Receptor, Transforming Growth Factor-beta Type II Receptors, Transforming Growth Factor beta / genetics
来 源: DOI:10.1016/j.ejmg.2017.03.010