Identification of a novel BAAT frameshift mutation in a female child diagnosed with skeletal dysplasia: A case report.

Duc Quan NguyenThi Bich Ngoc CanChi Dung VuThi Anh Thuong TranNgoc Lan NguyenThi Kim Lien NguyenVan Tung NguyenThanh Hien NguyenThi Huong Giang TranNguyen Huy Hoang

Published in: Medicine (2024)

This research reported a case of skeletal dysplasia caused by a frameshift mutation in the BAAT gene. The results of this study contribute to our understanding of the diverse factors that influence irregular skeletal development in children and provide genetic data to support clinical practice.

Keyphrases

clinical practice
genome wide
copy number
young adults
mental health
dna methylation
big data
gene expression
machine learning
deep learning
genome wide analysis