DNAH11 and a Novel Genetic Variant Associated with Situs Inversus: A Case Report and Review of the Literature.

Fatemeh Sodeifian Noosha Samieefar Sepideh Shahkarami Elham Rayzan Simin Seyedpour Meino Rohlfs Christoph Klein Delara Babaie Nima Rezaei

Published in: Case reports in medicine (2023)

in a 3-year-old boy with primary ciliary dyskinesia. Biallelic pathogenic variants in one of the many coding genes involved in the process of ciliogenesis lead to PCD.

Keyphrases

copy number
genome wide
intellectual disability
gene expression
dna methylation
autism spectrum disorder