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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| Published in: | Zhonghua gan zang bing za zhi Vol. 32; no. 4; p. 363 |
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| Main Authors: | , , |
| Format: | Journal Article |
| Language: | Chinese |
| Published: |
China
20-04-2024
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| Online Access: | Get more information |
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| Author | Li, Y C Xie, X B Li, Z D |
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| Author_xml | – sequence: 1 givenname: Y C surname: Li fullname: Li, Y C organization: The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai 201102, China – sequence: 2 givenname: Z D surname: Li fullname: Li, Z D organization: The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai 201102, China – sequence: 3 givenname: X B surname: Xie fullname: Xie, X B organization: The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai 201102, China |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/38733192$$D View this record in MEDLINE/PubMed |
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| Issue | 4 |
| Keywords | Liver dysfunction Global developmental delay Child Vacuolar protein sorting-associated protein 51 homolog |
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| SubjectTerms | Cerebellar Diseases Humans Infant Liver Male Mutation Vesicular Transport Proteins - genetics |
| Title | 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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