Baumann, Matthias <br/><br/>
Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation.  [electronic resource] 

 -  European journal of human genetics : EJHG  02 2017 
 - 262-266 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1476-5438 
<br/><br/><label>Standard No.: </label>10.1038/ejhg.2016.144  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Arthrogryposis--diagnosis<br/>Child<br/>Codon, Nonsense<br/>Cytoskeletal Proteins<br/>Genotype<br/>Homozygote<br/>Humans<br/>Male<br/>Muscle Weakness--diagnosis<br/>Muscle, Skeletal--metabolism<br/>Nerve Tissue Proteins--genetics<br/>Nuclear Proteins--genetics<br/>Pedigree<br/>Phenotype<br/>Syndrome