Powis, Zöe <br/><br/>
Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration.  [electronic resource] 

 -  BMC medical genetics  06 2017 
 - 60 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1471-2350 
<br/><br/><label>Standard No.: </label>10.1186/s12881-017-0426-3  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Clubfoot--diagnosis<br/>Exome<br/>Fatal Outcome<br/>Heart Defects, Congenital--diagnosis<br/>Humans<br/>Infant<br/>Male<br/>Mutation<br/>Phenotype<br/>Pierre Robin Syndrome--diagnosis<br/>Prognosis<br/>RNA-Binding Proteins--genetics<br/>Sequence Analysis, DNA