Wu, Shuiyan

Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case report. [electronic resource] - BMC pediatrics 08 2019 - 289 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1471-2431

10.1186/s12887-019-1656-7 doi


Child, Preschool
China
Female
Hereditary Central Nervous System Demyelinating Diseases--complications
Humans
Infant
Mutation--genetics
Pedigree
Phenotype
RNA Polymerase III--genetics