Prenatal diagnosis of PERCHING syndrome caused by homozygous loss of function variant in the KLHL7 gene

M Horton‐Bell, S Hamilton, R Keelagher… - Prenatal …, 2022 - Wiley Online Library
Aims A couple were referred for prenatal genetic testing at 31 weeks' gestation due to the
presence of mild polyhydramnios and multiple central nervous system (CNS) abnormalities …