Ontology highlight
ABSTRACT:
SUBMITTER: Chen X
PROVIDER: S-EPMC8165440 | biostudies-literature | 2021
REPOSITORIES: biostudies-literature
Chen Xiaojun X Liu Fatao F Mar Aung Zin Z Zhang Yan Y Chai Gang G
Frontiers in genetics 20210517
Hemifacial microsomia (HFM) is a rare congenital disease characterized by a spectrum of craniomaxillofacial malformations, including unilateral hypoplasia of the mandible and surrounding structures. Genetic predisposition for HFM is evident but the causative genes have not been fully understood. Thus, in the present study, we used whole-exome sequencing to screen 52 patients with HFM for rare germline mutations. We revealed 3,341 rare germline mutations in this patient cohort, including those in ...[more]