Ontology highlight
ABSTRACT:
SUBMITTER: Lin YF
PROVIDER: S-EPMC7723794 | biostudies-literature | 2020 Dec
REPOSITORIES: biostudies-literature
Lin Yung-Feng YF Lin Tzu-Ching TC Kirby Ralph R Weng Hui-Ying HY Liu Yen-Ming YM Niu Dau-Ming DM Tsai Shih-Feng SF Yang Chia-Feng CF
Molecular genetics and metabolism reports 20201206
Diagnosis of a 9-month-old boy brought to our genetics clinic with chief complaints of developmental delay (DD), failure to thrive, microcephaly, trunk hypotonia and hypertonia of the extremities. Multiple congenital defects but no significant syndromes or diseases were impressed. The chromosomal analysis and array comparative genomic hybridization (aCGH) revealed no significant pathogenic changes. Whole Genome Sequencing (WGS) identified a p.Glu1139fs <i>de novo</i> mutation of the <i>KAT6A</i> ...[more]