Article
Three-dimensional facial morphology in Cantú syndrome.
American journal of medical genetics. Part A - 1 May 2020
Roessler Helen I, Shields Kathleen, Grange Dorothy K, Knoers Nine V A M, van Haaften Gijs, Hammond Peter, van Haelst Mieke M
Abstract excerpt
Cantú syndrome (CS) was first described in 1982, and is caused by pathogenic variants in ABCC9 and KCNJ8 encoding regulatory and pore forming subunits of ATP-sensitive potassium (KATP ) channels, respectively. It is characterized by congenital hypertrichosis, osteochondrodysplasia, extensive cardiovascular abnormalities and distinctive facial anomalies including a broad nasal bridge, long philtrum, epicanthal...
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