Condition: Coarse facial features


rs137854544 in CTSA gene and Coarse facial features PMID 10944848 2000 Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.

PMID 24769197 2014 Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.

PMID 8968752 1996 Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.

rs104894229 in LRRC56;HRAS gene and Coarse facial features PMID 16969868 2006 Somatic mosaicism for an HRAS mutation causes Costello syndrome.

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.

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

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

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

PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.

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

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