Disease: Microcephaly pontocerebellar hypoplasia dyskinesia
- A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21
- A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia
- Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia
- Early fatal pontocerebellar hypoplasia in premature twin sisters
- Fatal outcome in a case of pontocerebellar hypoplasia type 2
- Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?
- Natural course of pontocerebellar hypoplasia type 2A
- Ponto-cerebellar hypoplasia with dystonia: clinico-pathological findings in a sporadic case
- Pontocerebellar hypoplasia associated with respiratory-chain defects
- Pontocerebellar hypoplasia in two siblings with dysmorphic features
- Pontocerebellar hypoplasia type 2 and Reye-like syndrome
- Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations
- Pontocerebellar Hypoplasia Type 9: A Case Study Highlighting Distinctive Magnetic Resonance Imaging Features
- Pontocerebellar hypoplasia with microcephaly and dyskinesia: report of two cases
- Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2
- The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): compiled data from 10 pedigrees
- TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family