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Article

Clinical characterization of Lamb-Shaffer syndrome: a case report and literature review.

BMC medical genomics - 9 Feb 2023

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

Abstract excerpt

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 phenotypes of one of our cases and two previously reported cases with c.1477C > T (p. R493*), and reviewed the correlating...

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Identifiers

PMID: 36759900
DOI: 10.1186/s12920-023-01448-4
PMCID: PMC9909913

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