Topa, Alexandra <br/><br/>
Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation.  [electronic resource] 

 -  American journal of medical genetics. Part A  May 2016 
 - 1155-64 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.37593  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Biopsy<br/>Bone Marrow Diseases--genetics<br/>Exocrine Pancreatic Insufficiency--genetics<br/>Exome--genetics<br/>Humans<br/>Infant, Newborn<br/>Lipomatosis--genetics<br/>Male<br/>Muscular Diseases--genetics<br/>Mutation, Missense<br/>Myofibrils--genetics<br/>Myosins--biosynthesis<br/>Proteins--genetics<br/>Sequence Analysis, DNA<br/>Shwachman-Diamond Syndrome