A novel SETD2 variant causing global development delay without overgrowth in a Chinese 3-year-old boy

Background: Luscan-Lumish syndrome is characterized by macrocephaly, postnatal overgrowth, intellectual disability (ID), developmental delay (DD), which is caused by heterozygous SETD2 (SET domain containing 2) mutations. The incidence of Luscan-Lumish syndrome is unclear. The study was conducted to...

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Detalles Bibliográficos
Autores principales: Wu, Yuanyuan, Liu, Fang, Wan, Ruihua, Jiao, Baoquan
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/PMC10072282/
https://www.ncbi.nlm.nih.gov/pubmed/37025455
http://dx.doi.org/10.3389/fgene.2023.1153284

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10072282/
https://www.ncbi.nlm.nih.gov/pubmed/37025455
http://dx.doi.org/10.3389/fgene.2023.1153284

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