Prenatal Diagnosis of Holt-Oram Syndrome With a Novel Mutation of TBX5 Gene: A Case Report

• Үндсэн зохиолчид: Guan-nan He (Зохиогч), Xue-yan Wang (Зохиогч), Min Kang (Зохиогч), Xi-min Chen (Зохиогч), Na Xi (Зохиогч), Jing Zhao (Зохиогч), Xi Chen (Зохиогч)
• Формат: Ном
• Хэвлэсэн: Frontiers Media S.A., 2021-10-01T00:00:00Z.
• Нөхцлүүд: article
• Онлайн хандалт: Connect to this object online.

Background: Holt-Oram syndrome (HOS) is an autosomal dominant disorder caused by mutations of TBX5 gene.Case presentation: We report a fetus with HOS diagnosed sonographically at 23 weeks of gestation. The fetal parents are non-consanguineous. The fetus exhibited short radius and ulna, inability to...