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

• Main Authors: Ling Yue (Author), Mei Jin (Author), Xin Wang (Author), Jing Wang (Author), Ling Chen (Author), Rong Jia (Author), Zuozhen Yang (Author), Fan Yang (Author), Jingman Li (Author), Cuiying Chen (Author), Huacheng Zheng (Author), Huafang Yang (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-03-01T00:00:00Z.
• Subjects: article
• Online Access: 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...