Ontology highlight
ABSTRACT:
SUBMITTER: Su Y
PROVIDER: S-EPMC8517520 | biostudies-literature | 2021
REPOSITORIES: biostudies-literature
Su Yajie Y Zhang Hui H Wang Huijun H Wu Bingbing B Yang Jiao J Zhou Wenhao W Li Long L
Frontiers in pediatrics 20211001
MEGDEL syndrome and <i>SATB2</i>-associated syndrome (SAS) are both rare congenital disorders with poor prognoses caused by gene mutations. We present the case of a 2-day-old girl with an unexplained abnormal liver function, feeding problem, and dystonia. Using next-generation sequencing, we identified two novel mutations in <i>SERAC1</i> and a mutation in <i>SATB2</i>. Now, she is 15 months old and has the characteristics of SAS, such as downslanting palpebral fissures and delayed primary denti ...[more]