Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ, N Engl J Med, vol.368, pp.1971-1979, 2013. ,
Mosaic activating mutations in GNA11 and GNAQ are associated with phakomatosis pigmentovascularis and extensive dermal melanocytosis, J Invest Dermatol, vol.136, pp.770-778, 2016. ,
URL : https://hal.archives-ouvertes.fr/hal-01408707
PIK3CA-Related Overgrowth Spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation, Am J Med Genet A, vol.167, pp.287-295, 2015. ,
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes, Nat Genet, vol.44, pp.934-940, 2012. ,
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation, Hum Mutat, vol.34, pp.1632-1641, 2013. ,
Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations, Am J Hum Genet, vol.73, pp.1240-1249, 2003. ,
RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations, Br J Dermatol, vol.158, pp.1035-1040, 2008. ,
RASA1 analysis: clinical and molecular findings in a series of consecutive cases, Eur J Med Genet, vol.55, pp.91-95, 2012. ,
Detection of RASA1 mutations in patients with sporadic Sturge-Weber syndrome, Childs Nerv Syst, vol.27, pp.603-607, 2011. ,
Lymphatic abnormalities are associated with RASA1 gene mutations in mouse and man, Proc Natl Acad Sci, vol.110, pp.8621-8626, 2013. ,
Vascular system defects and neuronal apoptosis in mice lacking ras GTPase-activating protein, Nature, vol.377, pp.695-701, 1995. ,
RASA1: variable phenotype with capillary and arteriovenous malformations, Curr Opin Genet Dev, vol.15, pp.265-269, 2005. ,
Vascular anomalies classification: recommendations from the International Society for the Study of Vascular Anomalies, Pediatrics, vol.136, pp.203-214, 2015. ,
Klippel-Trenaunay syndrome: the importance of "geographic stains" in identifying lymphatic disease and risk of complications, J Am Acad Dermatol, vol.51, pp.391-398, 2004. ,
Vascular stains: proposal for a clinical classification to improve diagnosis and management, Pediatr Dermatol, vol.33, pp.570-584, 2016. ,
Arterial blood flow in limbs with port-wine stains can predict length discrepancy, Br J Dermatol, vol.160, pp.219-220, 2009. ,
Risk factors for leg length discrepancy in patients with congenital vascular malformation, J Vasc Surg, vol.44, pp.545-553, 2006. ,
A Typical vascular and pigmentary dermoscopic pattern of capillary malformations in capillary malformation-arteriovenous malformation syndrome: report of four cases, Pediatr Dermatol, vol.33, pp.337-341, 2016. ,
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations, Hum Mutat, vol.29, pp.959-965, 2008. ,
Germline mutations in RASA1 are not found in patients with Klippel-Trenaunay syndrome or capillary malformation with limb overgrowth, Mol Syndromol, vol.4, pp.173-178, 2013. ,
EPHB4 mutation implicated in capillary malformation-arteriovenous malformation syndrome: a case report, Pediatr Dermatol, vol.34, pp.227-230, 2017. ,