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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| 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 |