Disease: Cerebellar hypoplasia with endosteal sclerosis
- Autosomal recessive cerebellar hypoplasia and endosteal sclerosis: a newly recognized syndrome
- Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder
- Cerebellar hypoplasia-endosteal sclerosis: a long term follow-up
- Neurological involvement in Worth type endosteal hyperostosis: report of a family
- Wiedemann-Rautenstrauch syndrome: A phenotype analysis