Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay

De novo sequence variants, including truncating and splicing variants, in the additional sex-combs like 3 gene (ASXL3) have been described as the cause of Bainbridge-Ropers syndrome (BRS). This pathology is characterized by delayed psychomotor development, severe intellectual disability, growth dela...

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Detalles Bibliográficos
Autores principales: Wayhelova, Marketa, Oppelt, Jan, Smetana, Jan, Hladilkova, Eva, Filkova, Hana, Makaturova, Eva, Nikolova, Petra, Beharka, Rastislav, Gaillyova, Renata, Kuglik, Petr
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2019
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6579994/
https://www.ncbi.nlm.nih.gov/pubmed/31180560
http://dx.doi.org/10.3892/mmr.2019.10303

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6579994/
https://www.ncbi.nlm.nih.gov/pubmed/31180560
http://dx.doi.org/10.3892/mmr.2019.10303

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