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- W3071121030 abstract "Clinical characteristics FREM1 autosomal recessive disorders include: Manitoba oculotrichoanal (MOTA) syndrome, bifid nose with or without anorectal and renal anomalies (BNAR syndrome), and isolated congenital anomalies of kidney and urinary tract (CAKUT). Diagnosis/testing The diagnosis of a FREM1 autosomal recessive disorder is established in a proband by identification of biallelic pathogenic variants in FREM1 on molecular genetic testing. Management Treatment of manifestations: Genetic counseling MOTA, BNAR syndrome, and FREM1-CAKUT are inherited in an autosomal recessive manner. At conception, each full sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once the FREM1 pathogenic variants have been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic diagnosis are possible." @default.
- W3071121030 created "2020-08-24" @default.
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- W3071121030 date "2019-05-09" @default.
- W3071121030 modified "2023-09-26" @default.
- W3071121030 title "FREM1 Autosomal Recessive Disorders" @default.
- W3071121030 hasPublicationYear "2019" @default.
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