Cargando…
Novel mutation in the ASXL3 gene in a Chinese boy with microcephaly and speech impairment: A case report
BACKGROUND: Bainbridge-Ropers syndrome (BRPS) is a severe disorder characterized by failure to thrive, facial dysmorphism, and severe developmental delay. BRPS is caused by a heterozygous loss-of-function mutation in the ASXL3 gene. Due to limited knowledge of the disease and lack of specific featur...
| Autores principales: | , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Baishideng Publishing Group Inc
2020
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7760454/ https://www.ncbi.nlm.nih.gov/pubmed/33392332 http://dx.doi.org/10.12998/wjcc.v8.i24.6465 |