Family-based exome sequencing identifies candidate genes related to keratoconus in Chinese families
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.988620
Abstract: Background: Keratoconus (KC) is a complex corneal disorder with a strong genetic component. The present study aimed to identify candidate genes related to KC in Chinese families. Methods: Family-based exome sequencing was performed in ten… read more here.
Keywords: directly interacted; based exome; family based; exome sequencing ... See more keywords
A unique case of Bloom syndrome with a combination of genetic hits: A lesson from trio‑based exome sequencing: A case report
Sign Up to like & getrecommendations! Published in 2023 at "Molecular Medicine Reports"
DOI: 10.3892/mmr.2023.12997
Abstract: Pathogenic variants affecting the BLM gene are responsible for the manifestation of extremely rare cancer-predisposing Bloom syndrome. The present study reports on a case of an infant with a congenital hypotrophy, short stature and abnormal… read more here.
Keywords: trio based; based exome; bloom syndrome; case ... See more keywords