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