Article
ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita.
Human genetics - 1 Aug 2015
Abumansour Iman S, Hijazi Hadia, Alazmi Anas, Alzahrani Fatma, Bashiri Fahad A, Hassan Hamdy, Alhaddab Mohammed, Alkuraya Fowzan S
Abstract excerpt
Cutis Marmorata Telangiectatica Congenita (CMTC) is a congenital localized or generalized vascular anomaly, usually sporadic in occurrence. It can be associated with other cutaneous or systemic manifestations. About 300 cases have been reported. The molecular etiology remains largely unknown. The main purpose of this study is to delineate the molecular basis for a syndromic CMTC phenotype in a consanguineous...
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