TY  - JOUR 
AU  - Rivas Arribas, Lucía
AU  - Blanco Barca, Manuel Oscar
AU  - TORREIRA BANZAS,  CRISTINA
AU  - Repáraz Andrade, Alfredo
AU  - MELCON CRESPO,  CRISTINA
AU  - Amado Puentes, Alfonso
PY  - 2017
UR  - http://hdl.handle.net/20.500.11940/9861
AB  - Pontocerebellar hypoplasia (PCH) is a reduction of the size of the cerebellum and pons secondary to an alteration in its development, and can be caused by neurodegenerative diseases of genetic origin, of which there are known 10 subtypes (PCH 1-10),...
LA  - spa
KW  - Neurodegenerative Diseases
KW  - Cerebellum
KW  - Intellectual Disability
KW  - Psychomotor Disorders
KW  - Microcephaly
TI  - Hipoplasia pontocerebelosa secundaria a deleción en el gen CASK. Caso Clínico
T2  - Pontocerebellar hypoplasia secondary to CASK gene deletion: Case report
DO  - 10.4067/S0370-41062017000400014
M2  - 529
KW  - Pontocerebellar hypoplasia
KW  - enfermedad genética
KW  - retraso psicomotor
KW  - sindrome de West
KW  - Enfermidade xenética
VL  - 88
ER  -