Ünal, Özlem <br/><br/>
Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation.  [electronic resource] 

 -  The Turkish journal of pediatrics   
 - 388-393 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>2791-6421 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Brain Diseases--genetics<br/>Carboxylic Ester Hydrolases--genetics<br/>Deafness--genetics<br/>Dystonia--genetics<br/>Female<br/>Humans<br/>Infant, Newborn<br/>Leigh Disease--genetics<br/>Magnetic Resonance Imaging<br/>Male<br/>Metabolism, Inborn Errors--diagnosis<br/>Microcephaly--genetics<br/>Muscle Spasticity--genetics<br/>Mutation<br/>Pedigree<br/>Siblings<br/>Syndrome<br/>Turkey