Article
Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations.
European journal of medical genetics - 1 May 2022
Schuart Claudia, Bassi Andrea, Kapp Friedrich, Wieland Ilse, Pagliazzi Angelica, Losch Heike, Mazzatenta Carlo, Bacci Giacomo M, Oranges Teresa, Schanze Denny, Mohnike Klaus, Nanda Arti, Fischer Judith, Zenker Martin, Happle Rudolf
Abstract excerpt
Cutis marmorata telangiectatica congenita (CMTC) is characterized by coarse-meshed capillary malformations arranged in asymmetrically distributed patches. The disorder may be associated with hyper- or hypoplastic limbs, syndactyly, cleft palate, and glaucoma. Because the disease usually occurs sporadically, the concept of a lethal mutation surviving by mosaicism was proposed about 30 years ago. Here we describe...
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