LAUSR

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

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2 Published in 2022 at "Prenatal Diagnosis"

DOI: 10.1002/pd.6249

Abstract: 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, including borderline ventriculomegaly, possible delayed sulcation, an enlarged cisterna… read more here.

Keywords: diagnosis perching; caused homozygous; diagnosis; syndrome caused ... See more keywords