Compound Heterozygous Variants in a Surviving Patient With Alkuraya-Kučinskas Syndrome: A New Case Report and a Review of the Literature

• Үндсэн зохиолчид: Ling Yue (Зохиогч), Mei Jin (Зохиогч), Xin Wang (Зохиогч), Jing Wang (Зохиогч), Ling Chen (Зохиогч), Rong Jia (Зохиогч), Zuozhen Yang (Зохиогч), Fan Yang (Зохиогч), Jingman Li (Зохиогч), Cuiying Chen (Зохиогч), Huacheng Zheng (Зохиогч), Huafang Yang (Зохиогч)
• Формат: Ном
• Хэвлэсэн: Frontiers Media S.A., 2022-03-01T00:00:00Z.
• Нөхцлүүд: article
• Онлайн хандалт: Connect to this object online.

BackgroundAlkuraya-Kučinskas syndrome is an autosomal recessive disorder characterized by brain abnormalities associated with cerebral parenchymal underdevelopment, arthrogryposis, club foot, and global developmental delay. Most reported cases were cases of premature termination of pregnancies or n...