Pseudoxanthoma elasticum (PXE) is an autosomal recessive connective tissue disorder caused by pathogenic variants in ATP-binding cassette subfamily C, member 6 (ABCC6). ABCC6 typically exports ATP, ...
Clinical manifestations in the fetus range from ultrasounds not revealing any abnormality to fetal death. Fetal ultrasounds may also reveal hydrocephalus, brain or hepatic calcifications, splenomegaly ...
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