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

• Auteurs principaux: Xu Yan (Auteur), Yueyue Hu (Auteur), Xin Zhang (Auteur), Xia Gao (Auteur), Yang Zhao (Auteur), Haiying Peng (Auteur), Liu Ouyang (Auteur), Changjun Zhang (Auteur)
• Format: Livre
• Publié: BMC, 2024-01-01T00:00:00Z.
• Sujets: article
• Accès en ligne: 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...