Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report

BACKGROUND: Bainbridge–Ropers syndrome (BRPS) is a recently described developmental disorder caused by de novo truncating mutations in the Additional sex combs-like 3 (ASXL3) gene. Only four cases have been reported in China and are limited to the analysis of its clinical abnormalities, medical imag...

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Detalles Bibliográficos
Autores principales: Yang, Linfeng, Guo, Bin, Zhu, Weiwei, Wang, Lei, Han, Bingjuan, Che, Yena, Guo, Lingfei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7282141/
https://www.ncbi.nlm.nih.gov/pubmed/32517662
http://dx.doi.org/10.1186/s12887-020-02027-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7282141/
https://www.ncbi.nlm.nih.gov/pubmed/32517662
http://dx.doi.org/10.1186/s12887-020-02027-7

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