A case report and literature review of pontocerebellar hypoplasia type 13 combined with abnormal liver function caused by VPS51 gene variation

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Bibliographic Details
Published in:	Zhonghua gan zang bing za zhi Vol. 32; no. 4; p. 363
Main Authors:	Li, Y C, Li, Z D, Xie, X B
Format:	Journal Article
Language:	Chinese
Published:	China 20-04-2024
Subjects:	Cerebellar Diseases Humans Infant Liver Male Mutation Vesicular Transport Proteins - genetics Liver dysfunction Global developmental delay Child Vacuolar protein sorting-associated protein 51 homolog
Online Access:	Get more information
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ISSN:	1007-3418
DOI:	10.3760/cma.j.cn501113-20231128-00244