Margaret Yang

FKBP14‐related Ehlers‐Danlos syndrome: Expansion of the phenotype to include vascular complications

P. Byers, C. Fauth, Mitzi L. Murray, 2014, American Journal of Medical Genetics. Part A.

Loss-of-function mutations in TGFB 2 cause a syndromic presentation of thoracic aortic aneurysm

Gallo, Brunner, E. Fishman, 2013 .

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

E. Fishman, E. Bongers, G. Mortier, 2012, Nature Genetics.

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

D. Nickerson, M. Dorschner, T. Meitinger, 2016, American journal of human genetics.