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...

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