[A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood].
Morisada, Naoya
[A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood]. [electronic resource] - No to hattatsu = Brain and development May 2016 - 209-12 p. digital
Publication Type: Case Reports; English Abstract; Journal Article
0029-0831
Adolescent
Adult
Autophagy--genetics
Carrier Proteins--genetics
Child
Child, Preschool
Delayed Diagnosis
Diagnosis, Differential
Female
Genetic Testing
Humans
Infant
Iron Metabolism Disorders--diagnosis
Mutation
Neuroaxonal Dystrophies--diagnosis
Rett Syndrome
Young Adult
[A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood]. [electronic resource] - No to hattatsu = Brain and development May 2016 - 209-12 p. digital
Publication Type: Case Reports; English Abstract; Journal Article
0029-0831
Adolescent
Adult
Autophagy--genetics
Carrier Proteins--genetics
Child
Child, Preschool
Delayed Diagnosis
Diagnosis, Differential
Female
Genetic Testing
Humans
Infant
Iron Metabolism Disorders--diagnosis
Mutation
Neuroaxonal Dystrophies--diagnosis
Rett Syndrome
Young Adult