Cozijnsen, Luc <br/><br/>
Pathogenic effect of a TGFBR1 mutation in a family with Loeys-Dietz syndrome.  [electronic resource] 

 -  Molecular genetics & genomic medicine  10 2019 
 - e00943 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>2324-9269 
<br/><br/><label>Standard No.: </label>10.1002/mgg3.943  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Actins--genetics<br/>Adult<br/>Cell Transdifferentiation<br/>Female<br/>Fibroblasts--cytology<br/>Humans<br/>Loeys-Dietz Syndrome--diagnosis<br/>Male<br/>Middle Aged<br/>Myosin Heavy Chains--genetics<br/>Pedigree<br/>Polymorphism, Single Nucleotide<br/>Receptor, Transforming Growth Factor-beta Type I--genetics