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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
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

Internet

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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