A de novo mutation of ADAMTS8 in a patient with Wiedemann–Steiner syndrome

BACKGROUND: Wiedemann–Steiner syndrome (WDSTS) is a rare autosomal dominant disorder caused by mutations in the KMT2A gene and is usually characterized by hairy elbows, short stature, developmental delay, intellectual disability and obvious facial dysmorphism. CASE PRESENTATION: Here, we report a 5-...

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Detalles Bibliográficos
Autores principales: Wang, Sifeng, Yan, Shuyuan, Xiao, Jingjun, Chen, Ying, Chen, Anji, Deng, Aimin, Wang, Tuanmei, He, Jun, Peng, Xiangwen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10469774/
https://www.ncbi.nlm.nih.gov/pubmed/37649104
http://dx.doi.org/10.1186/s13039-023-00654-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10469774/
https://www.ncbi.nlm.nih.gov/pubmed/37649104
http://dx.doi.org/10.1186/s13039-023-00654-0

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