Article
Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature.
Orphanet journal of rare diseases - 3 Jul 2021
Kamil Gilyazetdinov, Yoon Ju Young, Yoo Sukdong, Cheon Chong Kun
Abstract excerpt
BACKGROUND: Large-scale genomic analyses have provided insight into the genetic complexity of short stature (SS); however, only a portion of genetic causes have been identified. In this study, we identified disease-causing mutations in a cohort of Korean patients with suspected syndromic SS by targeted exome sequencing (TES). METHODS: Thirty-four patients in South Korea with suspected syndromic disorders based on...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.