Ontology highlight
ABSTRACT:
SUBMITTER: Wang Q
PROVIDER: S-EPMC10100107 | biostudies-literature | 2023 Jan
REPOSITORIES: biostudies-literature
Wang Qiuquan Q Wu Jie J Yang Jinyuan J Huang Shasha S Yuan Yongyi Y Dai Pu P
American journal of medical genetics. Part A 20221111 1
Coffin-Siris syndrome (CSS, OMIM#135900) is a rare congenital disorder associated with neurodevelopmental and dysmorphic features. The primary cause of CSS is pathogenic variants in any of 9 BAF chromatin-remodeling complex encoding genes or the genes SOX11 and PHF6. Herein, we performed whole-exome sequencing (WES) and a series of analyses of growth-related, auditory, and radiological findings in two probands with syndromic sensorineural hearing loss and inner ear malformations who exhibited di ...[more]