Case Report: Progressive Cholestasis: Severe Phenotype of MEGDEL Syndrome With SATB2-Associated Syndrome

• Główni autorzy: Yajie Su (Autor), Hui Zhang (Autor), Huijun Wang (Autor), Bingbing Wu (Autor), Jiao Yang (Autor), Wenhao Zhou (Autor), Long Li (Autor)
• Format: Książka
• Wydane: Frontiers Media S.A., 2021-10-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

MEGDEL syndrome and SATB2-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...