WebJun 7, 2024 · First recognized as a distinct condition 37 years ago (Cantu, Garcia-Cruz, Sanchez-Corona, Hernandez, & Nazar, 1982), Cantú syndrome (CS) is a complex syndrome involving hypertrichosis and distinctive facial features, as well as a low frontal hairline, epicanthal folds, puffy eyelids, flat nasal bridge with broad nasal tip, long … WebCantú syndrome, or hypertrichotic osteochondrodysplasia, is a rare autosomal dominant disease characterized by congenital hypertrichosis, characteristic dysmorphisms, skeletal abnormalities and cardiomegaly.
Cantú syndrome - Wikipedia
WebHypertrichotic osteochondrodysplasia, commonly known as Cantú syndrome (CS), named after the Mexican physician José Maria “Chema” Cantú, who first delineated the disease [2], is a rare genetic disorder characterized by excessive hair growth (hypertrichosis), distinctive facial appearance (large head, broad nasal bridge, epicanthal folds and a … WebAug 9, 2024 · Cantu syndrome (CS) is characterized by multiple vascular and cardiac abnormalities including vascular dilation and tortuosity, systemic hypotension, and cardiomegaly. The disorder is caused by gain-of-function (GOF) mutations in genes encoding pore-forming (Kir6.1, KCNJ8) and accessory (SUR2, ABCC9 … kudlu in which state
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WebRaising Awareness & Funds with NORD. Do-It-Yourself NORD Fundraiser; Students for Rare; Sports & Fitness Fundraisers; Media Inquiries; In your community WebThis protein forms one part (subunit) of a channel that transports charged atoms of potassium (potassium ions) across cell membranes. Each of these channels consists of eight subunits: four SUR2 proteins and four proteins produced from either the KCNJ8 or … WebThe Cantu Syndrome Interest Group is a worldwide network of clinicians, scientists and patients seeking to understand, inform and develop appropriate therapies for Cantu … kudlik construction ltd