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Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

bidvsg2yck84
Abstract CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlapping phenotypic spectrum comprising central nervous system (CNS) anomalies (7/12). combined CNS anomalies and congenital anomalies of the kidneys and urinary tract (CAKUT) (3... https://excellentphoto.shop/product-category/action-camera-accessories/
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