Condition: Kyphosis deformity of spine
rs137854544 in
CTSA gene and
Kyphosis deformity of spine
PMID 8968752 1996 Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.
PMID 24769197 2014 Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.
PMID 10944848 2000 Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
rs121908595 in
MAP2K1 gene and
Kyphosis deformity of spine
PMID 17567882 2007 Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome.
PMID 17366577 2007 Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
PMID 19156172 2009 Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.
PMID 18042262 2008 Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
PMID 17551924 2007 Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome.
PMID 17981815 2008 Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options.