Six new cases of CRB2‐related syndrome and a review of clinical findings in 28 reported patients
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DOI: 10.1111/cge.14222
Abstract: The Crumbs homolog‐2 (CRB2)‐related syndrome (CRBS‐RS) is a rarely encountered condition initially described as a triad comprising ventriculomegaly, Finnish nephrosis, and elevated alpha‐fetoprotein levels in maternal serum and amniotic fluid. CRB2‐related syndrome is caused by… read more here.
Keywords: pathogenic variants; syndrome; six new; related syndrome ... See more keywords