Articles on Chromodomain helicase DNA-binding

Pilarowski–Bjornsson Syndrome with Congenital Heart Defect: A Case Report and Literature Review

Khdir H. Hamad, Sadraldin A. Braim, Dyari Q. Hamad, Araz Q. Abdalla, Maria A. Rasool, Galawezh R. Hamad, Karukh K. Mohammed, Barham H. Bapir and 2 more

Introduction Pilarowski–Bjornsson syndrome (PILBOS) is a rare autosomal dominant neurodevelopmental disorder caused by heterozygous variants in chromodomain helicase DNA-binding protein 1 (CHD1), a gene encoding an adenosine triphosphate (ATP)-dependent chromatin remodeler. Since its initial description in 2018, only…

2026 1,330 reads 0 citations