HIGHLIGHTS
- who: Guo-qing Zhu from the (UNIVERSITY) have published the article: Clinical characterization of Lamb-Shaffer syndrome: a case report and literature review, in the Journal: (JOURNAL)
- what: The authors report the genetic and clinical manifestations of a patient with LAMSHF and compare them with 2 previously reported cases with recurrent variation. This study reported one LAMSHF case with the SOX5 gene variant.
- future: Future studies on LAMSHF patients with same variants iPSC derived neurons could be conducted as different phenotypic variations were observed.
SUMMARY
Lamb-Shaffer syndrome (LAMSHF . . .
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