Al Dhaibani, Muna A <br/><br/>
B3GALNT2-Related Dystroglycanopathy: Expansion of the Phenotype with Novel Mutation Associated with Muscle-Eye-Brain Disease, Walker-Warburg Syndrome, Epileptic Encephalopathy-West Syndrome, and Sensorineural Hearing Loss.  [electronic resource] 

 -  Neuropediatrics  08 2018 
 - 289-295 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Review 
<br/><br/><label>ISSN: </label>1439-1899 
<br/><br/><label>Standard No.: </label>10.1055/s-0038-1651519  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child, Preschool<br/>Codon, Nonsense<br/>Delayed Diagnosis<br/>Female<br/>Genetic Association Studies<br/>Hearing Loss, Sensorineural--genetics<br/>Humans<br/>Infant<br/>N-Acetylgalactosaminyltransferases--genetics<br/>Phenotype<br/>Spasms, Infantile--genetics<br/>Walker-Warburg Syndrome--diagnostic imaging