Sampaolo, Simone <br/><br/>
Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix.  [electronic resource] 

 -  Journal of medical genetics  10 2017 
 - 710-720 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmedgenet-2017-104555  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Animals<br/>Connective Tissue Diseases--genetics<br/>Extracellular Matrix--physiology<br/>Eye Diseases--genetics<br/>Female<br/>Gene Knock-In Techniques<br/>Humans<br/>Laminin--genetics<br/>Male<br/>Mice<br/>Muscular Diseases--genetics<br/>Mutation<br/>Pedigree<br/>Phenotype<br/>Skin Abnormalities--genetics<br/>Syndrome