Clinical and genetic features of luscan-lumish syndrome associated with a novel de novo variant of SETD2 gene: Case report and literature review

Introduction: Luscan-Lumish syndrome (LLS) is currently recognized as a rarely-observed condition featured with overgrowth, macrocephaly, obesity, type I Chiari malformation, and linguistic retardation. So far, there have been only a few LLS cases registered worldwide, but with none of them reported...

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Detalles Bibliográficos
Autores principales: Zhang, Yanqing, Zhang, Haozheng, Wu, Wei, Wang, Dong, Lv, Yuqiang, Zhao, Dongmei, Wang, Lingxiao, Liu, Yi, Zhang, Kaihui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9911649/
https://www.ncbi.nlm.nih.gov/pubmed/36777730
http://dx.doi.org/10.3389/fgene.2023.1081391

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9911649/
https://www.ncbi.nlm.nih.gov/pubmed/36777730
http://dx.doi.org/10.3389/fgene.2023.1081391

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