Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Capillary infantile hemangioma is a common disorder in newborns and infants which is characterised by a benign red skin tumor. The familial form is caused by autosomal dominant mutations in the FLT4 or KDR gene. The somatic form is caused by mutations of the FLT4 or KDR gene found in tumor cells.
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Blei F et al. (1998) Familial segregation of hemangiomas and vascular malformations as an autosomal dominant trait.
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Walter JW et al. (1999) Genetic mapping of a novel familial form of infantile hemangioma.
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Breugem CC et al. (2002) A locus for hereditary capillary malformations mapped on chromosome 5q.
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Ritter MR et al. (2002) Insulin-like growth factor 2 and potential regulators of hemangioma growth and involution identified by large-scale expression analysis.
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Waner M et al. (2003) The nonrandom distribution of facial hemangiomas.
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Spring MA et al. (2005) Cutaneous vascular lesions.
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Pramanik K et al. (2009) Dusp-5 and Snrk-1 coordinately function during vascular development and disease.
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Jinnin M et al. (2008) Suppressed NFAT-dependent VEGFR1 expression and constitutive VEGFR2 signaling in infantile hemangioma.
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| 10. |
OMIM.ORG article Omim 602089
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