Uniparental disomy for chromosome 1 with POMGNT1 splice-site variant causes muscle-eye-brain disease.
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| Title: | Uniparental disomy for chromosome 1 with POMGNT1 splice-site variant causes muscle-eye-brain disease. |
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| Authors: | Liu YD; Department of Pediatrics, Peking University First Hospital, Beijing, China., Tan DD; Department of Pediatrics, Peking University First Hospital, Beijing, China., Song DY; Department of Pediatrics, Peking University First Hospital, Beijing, China., Fan YB; Department of Pediatrics, Peking University First Hospital, Beijing, China., Fu XN; Department of Pediatrics, Peking University First Hospital, Beijing, China., Ge L; Department of Pediatrics, Peking University First Hospital, Beijing, China., Wei W; Beijing Kangso Medical Inspection Co., Ltd., Beijing, China., Xiong H; Department of Pediatrics, Peking University First Hospital, Beijing, China. |
| Source: | Frontiers in genetics [Front Genet] 2023 Jun 05; Vol. 14, pp. 1170089. Date of Electronic Publication: 2023 Jun 05 (Print Publication: 2023). |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
| ISSN: | 1664-8021 |
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| DOI: | 10.3389/fgene.2023.1170089 |
