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

• मुख्य लेखकों: Yajie Su (लेखक), Hui Zhang (लेखक), Huijun Wang (लेखक), Bingbing Wu (लेखक), Jiao Yang (लेखक), Wenhao Zhou (लेखक), Long Li (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Frontiers Media S.A., 2021-10-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...