Condition: Hydrocephalus


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

rs104894229 in LRRC56;HRAS gene and Hydrocephalus PMID 17054105 2007 Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.

PMID 16443854 2006 Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

PMID 16969868 2006 Somatic mosaicism for an HRAS mutation causes Costello syndrome.

PMID 19206176 2009 Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.

PMID 16881968 2006 Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.

PMID 16329078 2006 HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

PMID 16372351 2006 HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.

rs267607116 in TMEM67 gene and Hydrocephalus PMID 19508969 2009 Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).