Fujiwara, Takayuki <br/><br/>
Distinct variants affecting differential splicing of TGFBR1 exon 5 cause either Loeys-Dietz syndrome or multiple self-healing squamous epithelioma.  [electronic resource] 

 -  European journal of human genetics : EJHG  08 2018 
 - 1151-1158 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1476-5438 
<br/><br/><label>Standard No.: </label>10.1038/s41431-018-0127-1  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alternative Splicing<br/>Carcinoma--genetics<br/>Exons<br/>Female<br/>HEK293 Cells<br/>Humans<br/>Keratoacanthoma--genetics<br/>Loeys-Dietz Syndrome--genetics<br/>Male<br/>Middle Aged<br/>Mutation, Missense<br/>Pedigree<br/>Receptor, Transforming Growth Factor-beta Type I--genetics