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Postaxial acrofacial dysostosis: Report on two patients

✍ Scribed by Pereira, Sonia C. S. ;Rocha, Christiane M. G. ;Guion-Almeida, M. L. ;Richieri-Costa, A.

Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
467 KB
Volume
44
Category
Article
ISSN
0148-7299

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## Abstract Loeys–Dietz syndrome (LDS, OMIM # 609192) caused by heterozygous mutations in __TGFBR1__ and __TGFBR2__ has recently been described as an important cause of familial aortic aneurysms. These patients have craniofacial and skeletal features that overlap with the Marfan syndrome (MFS), and