Case report: A de novo NSD2 truncating variant in a child with Rauch-Steindl syndrome

Wolf–Hirschhorn syndrome (WHS) is a rare genetic disorder caused by a heterozygous deletion on chromosome 4p16.3, which is called the WHS critical region (WHSC). The major features of this disorder, including “Greek warrior helmet” facies, delayed growth, intellectual disability, seizures, and skele...

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Detalles Bibliográficos
Autores principales: Yang, Qi, Gong, Di, Yi, Shang, Luo, Jingsi, Zhang, Qinle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10282739/
https://www.ncbi.nlm.nih.gov/pubmed/37351323
http://dx.doi.org/10.3389/fped.2023.1064783

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10282739/
https://www.ncbi.nlm.nih.gov/pubmed/37351323
http://dx.doi.org/10.3389/fped.2023.1064783

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