The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome-Reference-Cited by-同舟云学术

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

Published:2014-04-16 Issue:2 Volume:23 Page:224-228
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Schepers Dorien^ORCID,Doyle Alexander J,Oswald Gretchen,Sparks Elizabeth,Myers Loretha,Willems Patrick J,Mansour Sahar,Simpson Michael A,Frysira Helena,Maat-Kievit Anneke,Van Minkelen Rick,Hoogeboom Jeanette M,Mortier Geert R,Titheradge Hannah,Brueton Louise,Starr Lois,Stark Zornitza,Ockeloen Charlotte,Lourenco Charles Marques,Blair Ed,Hobson Emma,Hurst Jane,Maystadt Isabelle,Destrée Anne,Girisha Katta M,Miller Michelle,Dietz Harry C,Loeys Bart,Van Laer Lut

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201461.pdf

Reference20 articles.

1. Shprintzen RJ, Goldberg RB : A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias. J Craniofac Genet Dev Biol 1982; 2: 65–74.

2. Robinson PN, Neumann LM, Demuth S et al: Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. Am J Med Genet A 2005; 135: 251–262.

3. Renard M, Holm T, Veith R et al: Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. Eur J Hum Genet 2010; 18: 895–901.

4. Coucke PJ, Willaert A, Wessels MW et al: Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet 2006; 38: 452–457.

5. Neptune ER, Frischmeyer PA, Arking DE et al: Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet 2003; 33: 407–411.

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