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Clinical characterization of Lamb-Shaffer syndrome: a case report and literature review
BACKGROUND: Lamb-Shaffer syndrome (LAMSHF, MIM 616,803) is a rare neurodevelopmental disorder due to haploinsufficiency of SOX5. Furthermore, studies about the clinical features of LAMSHF patients with same allele of c.1477C > T (p. R493*) are very limited. CASE PRESENTATION: We analyzed the phen...
Autores principales: | Zhu, Guo-qing, Dong, Ping, Li, Dong-yun, Hu, Chun-chun, Li, Hui-ping, Lu, Ping, Pan, Xue-xia, He, Lin-lin, Xu, Xiu, Xu, Qiong |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9909913/ https://www.ncbi.nlm.nih.gov/pubmed/36759900 http://dx.doi.org/10.1186/s12920-023-01448-4 |
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