Ontology highlight
ABSTRACT:
SUBMITTER: Liu J
PROVIDER: S-EPMC7434750 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
Liu Jing J Lin Pengsiyuan P Pang Jialun J Jia Zhengjun Z Peng Ying Y Xi Hui H Wu Lingqian L Li Zhuo Z Wang Hua H
Molecular genetics & genomic medicine 20200615 8
<h4>Background</h4>Treacher Collins syndrome (TCS) is the most common mandibulofacial dysostosis with an autosomal dominant or rarely recessive manner of inheritance. It is still challenging to make a definite diagnosis for affected fetuses with TCS only depending on the ultrasound screening. Genetic tests can contribute to the accurate diagnosis for those prenatal cases.<h4>Methods</h4>Targeted exome sequencing was performed in a fetus of a Chinese family, who presenting an abnormal facial appe ...[more]