A Novel <i>SMAD4</i> Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia

<div>(a) Electropherogram of the mutation in<i> SMAD4</i>. (b) The SMAD protein and its domains. The novel mutation is indicated. At the bottom of the figure, the 11 exons in relation to the protein are shown. Early described mutational hot spot in exon 9 is marked out [<a href="/journals/crigm/2015/140616/#B6">6</a>].</div>

Case Reports in Gastrointestinal Medicine

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Figure 1: A Novel <i>SMAD4</i> Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia 

Figure 1 | A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia 