Condition: Polyhydramnios


rs121913348 in BRAF gene and Polyhydramnios PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.

rs1554333853 in CDK13 gene and Polyhydramnios PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs779027563 in CNTNAP1 gene and Polyhydramnios PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs1034395178 in LZTR1 gene and Polyhydramnios PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs80338796 in RAF1 gene and Polyhydramnios PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.