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

Shprintzen–Goldberg syndrome (SGS) is a rare, systemic connective tissue disorder characterized by craniofacial, skeletal, and cardiovascular manifestations that show a significant overlap with the features observed in the Marfan (MFS) and Loeys–Dietz syndrome (LDS). A distinguishing observation in...

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Xehetasun bibliografikoak
Argitaratua izan da:Eur J Hum Genet
Egile Nagusiak: Schepers, Dorien, 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group 2015
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4297897/
https://ncbi.nlm.nih.gov/pubmed/24736733
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.61
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