The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome

De novo exon 1 missense mutations ofSKIand Shprintzen-Goldberg syndrome: Two new cases and a clinical review

(2013) P.Y. Billie Au et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

(2012) Virginie Carmignac et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm

(2012) Alexander J Doyle et al.   NATURE GENETICS

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

(2011) Ingrid M B H van de Laar et al.   NATURE GENETICS

Noncanonical TGF  Signaling Contributes to Aortic Aneurysm Progression in Marfan Syndrome Mice

(2011) T. M. Holm et al.   SCIENCE

Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

(2010) Marjolijn Renard et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Ski and SnoN, potent negative regulators of TGF-β signaling

(2008) Julien Deheuninck et al.   CELL RESEARCH