Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder
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DOI: 10.1038/ejhg.2017.73
Abstract: CHES (cerebellar hypoplasia with endosteal sclerosis) syndrome (OMIM#213002) associates hypomyelination, cerebellar atrophy, hypogonadism and hypodontia. So far, only five patients have been described. The condition is of neonatal onset. Patients have severe psychomotor delay and… read more here.
Keywords: cerebellar hypoplasia; hypoplasia endosteal; endosteal sclerosis; polr3 related ... See more keywords