De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype

BACKGROUND: Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome caused by partial 4p deletion highly variable in size in individual patients. The core WHS phenotype is defined by the association of growth delay, typical facial characteristics, intellectual disability and seizures. The WHS c...

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Detalles Bibliográficos
Autores principales: Jiang, Yanrui, Sun, Huizhen, Lin, Qingmin, Wang, Zengge, Wang, Guanghai, Wang, Jian, Jiang, Fan, Yao, Ruen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6683463/
https://www.ncbi.nlm.nih.gov/pubmed/31382906
http://dx.doi.org/10.1186/s12881-019-0863-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6683463/
https://www.ncbi.nlm.nih.gov/pubmed/31382906
http://dx.doi.org/10.1186/s12881-019-0863-2

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