Article
Clinical features of patients with Yin Yang 1 deficiency causing Gabriele-de Vries syndrome: A new case and review of the literature.
Annals of human genetics - 1 Jan 2022
Khamirani Hossein Jafari, Zoghi Sina, Namdar Zahra Mehdipour, Kamal Neda, Dianatpour Mehdi, Tabei Seyed Mohammad Bagher, Mohammadi Sanaz, Dehghanian Fatemeh, Farbod Zahra, Dastgheib Seyed Alireza
Abstract excerpt
BACKGROUND: Gabriele-de Vries syndrome is a rare autosomal dominant genetic disease caused by de novo pathogenic variants in YY1. In this study, we report a 10-year-old boy with a de novo novel pathogenic variant in YY1, the first Iranian patient with Gabriele-de Vries Syndrome. METHODS: The novel de novo pathogenic variant detected in this study (NM_003403:c.690delA, p.Glu231Ilefs*25) was identified by...
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