TY  - GEN
AU  - Al Dhaibani,Muna A
AU  - El-Hattab,Ayman W
AU  - Ismayl,Omar
AU  - Suleiman,Jehan
TI  - 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
SN  - 1439-1899
PY  - 2019///1010
KW  - Child, Preschool
KW  - Codon, Nonsense
KW  - Delayed Diagnosis
KW  - Female
KW  - Genetic Association Studies
KW  - Hearing Loss, Sensorineural
KW  - genetics
KW  - Humans
KW  - Infant
KW  - N-Acetylgalactosaminyltransferases
KW  - Phenotype
KW  - Spasms, Infantile
KW  - Walker-Warburg Syndrome
KW  - diagnostic imaging
N1  - Publication Type: Case Reports; Journal Article; Review
UR  - https://doi.org/10.1055/s-0038-1651519
ER  -