KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup)

Heterozygous pathogenic variants in the KAT6B gene, which encodes lysine acetyltransferase 6B, have been identified in patients with congenital rare disorders, including genitopatellar syndrome and Say-Barber-Biesecker-Young-Simpson syndrome. Herein, we report another Japanese patient with a KAT6B-r...

Descripción completa

Detalles Bibliográficos
Autores principales: Hamaguchi, Yo, Aoki, Mikihiro, Watanabe, Satoshi, Mishima, Hiroyuki, Yoshiura, Koh-ichiro, Moriuchi, Hiroyuki, Dateki, Sumito
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6911078/
https://www.ncbi.nlm.nih.gov/pubmed/31871732
http://dx.doi.org/10.1038/s41439-019-0085-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6911078/
https://www.ncbi.nlm.nih.gov/pubmed/31871732
http://dx.doi.org/10.1038/s41439-019-0085-3

Ejemplares similares