Ontology highlight
ABSTRACT:
SUBMITTER: Rios-Serna LJ
PROVIDER: S-EPMC6260184 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Ríos-Serna Lady J LJ Díaz-Ordoñez Lorena L Candelo Estephania E Pachajoa Harry H
The application of clinical genetics 20181123
Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterized by congenital cardiac defects and congenital deformities of the upper limbs. Herein, we report the case of a 2-year-old patient presenting with clinical diagnostic criteria of HOS with interatrial and interventricular communication associated with hip dysplasia and upper limb reduction composed of radial ray anomaly. A novel de novo, potentially pathogenic variant in the <i>TBX5</i> gene at NM_181486.2:c.243-1G>C was identi ...[more]