Identification of a novel intronic mutation of MAGED2 gene in a Chinese family with antenatal Bartter syndrome

• Hoofdauteurs: Xu Yan (Auteur), Yueyue Hu (Auteur), Xin Zhang (Auteur), Xia Gao (Auteur), Yang Zhao (Auteur), Haiying Peng (Auteur), Liu Ouyang (Auteur), Changjun Zhang (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2024-01-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Abstract Background Antenatal Bartter syndrome is a life-threatening disease caused by a mutation in the MAGED2 gene located on chromosome Xp11. It is characterized by severe polyhydramnios and extreme prematurity. While most reported mutations are located in the exon region, variations in the intro...