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Capillary malformation
- ... gene have been identified in people with microcephaly-capillary malformation syndrome, an inherited disorder characterized by an abnormally ... small blood vessels in the skin called capillaries (capillary malformations).The known STAMBP gene mutations reduce or eliminate ...
- ... the RASA1 gene have been found to cause capillary malformation-arteriovenous malformation syndrome (CM-AVM), which is a ... individuals usually have multiple vascular abnormalities known as capillary malformations. Parkes Weber syndrome is also characterized by other ...
- ... found to cause a condition known as megalencephaly-capillary malformation syndrome (MCAP), which is characterized by overgrowth of ... enlargement of small blood vessels in the skin (capillary malformations). The mutations that cause MCAP overlap with those ...
- ... subunit alpha Tests of GNAQ PubMed MELANOMA, UVEAL CAPILLARY MALFORMATIONS, CONGENITAL; CMC GUANINE NUCLEOTIDE-BINDING PROTEIN, Q POLYPEPTIDE; ...
- ... 1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet. 2009 Jun;84(6): ...
- ... into veins rather than into other vessels called capillaries. These abnormalities are called arteriovenous malformations. When they occur in vessels near the surface ...