ITPR1

Sarah Harris1, Manesha Putra2, Kelly L Gilmore3

  • 1Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Atrium Health Wake Forest Baptist, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA.

Prenatal diagnosis
|September 14, 2023
PubMed
概括

两个患有非免疫性水性胎儿的胎儿在ITPR1基因中可能存在致病变体. 这项研究确定了与ITPR1相关的严重胎儿表现.