Pedurupillay, Christeen Ramane J <br/><br/>
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.  [electronic resource] 

 -  Neuromuscular disorders : NMD  09 2016 
 - 570-5 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1873-2364 
<br/><br/><label>Standard No.: </label>10.1016/j.nmd.2016.06.457  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child<br/>Child, Preschool<br/>DNA-Binding Proteins--genetics<br/>Fatal Outcome<br/>Female<br/>Humans<br/>Infant<br/>Male<br/>Mutation<br/>Phenotype<br/>Respiratory Insufficiency--genetics<br/>Siblings<br/>Spinal Muscular Atrophies of Childhood--genetics<br/>Transcription Factors--genetics