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

• Main Authors: Yajie Su (Author), Hui Zhang (Author), Huijun Wang (Author), Bingbing Wu (Author), Jiao Yang (Author), Wenhao Zhou (Author), Long Li (Author)
• Format: Book
• Published: Frontiers Media S.A., 2021-10-01T00:00:00Z.
• Subjects: article
• Online Access: 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...