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Cantu syndrome

Known as: HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome 
National Institutes of Health

Papers overview

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2019
2019
Cantu Syndrome (CS) is a complex disorder caused by gain-of-function (GoF) mutations in ABCC9 and KCNJ8, which encode the SUR2… 
2018
2018
Cantu syndrome (CS) is characterized by multiple vascular and cardiac abnormalities including vascular dilation and tortuosity… 
2016
2016
Significance ATP-sensitive potassium (KATP) channels are present in cardiac and smooth muscle; when activated, they relax blood… 
2011
2011
Three female patients with Cantu syndrome were studied, two of whom were adults presenting with the complication of lymphoedema… 
2007
2007
CONTEXT The PTH/PTHrP receptor type 1 (PTHR1) has a key role in endochondral ossification, which is emphasized by diseases… 
Review
2006
Review
2006
Cantu syndrome, or hypertrichosis‐osteodysplasia‐cardiomegaly syndrome, is a rare disorder of unknown etiology, associated with… 
Review
2000
Review
2000
Abstract Blomstrand osteochondrodysplasia (BOCD) is a rare, autosomal recessive, lethal skeletal dysplasia characterized by… 
Highly Cited
1999
Highly Cited
1999
Blomstrand osteochondrodysplasia (BOCD) is a rare lethal skeletal dysplasia characterized by accelerated endochondral and… 
1946
1946
IN 1941, we reported 3 cases of osteochondrodystrophia deformans1(eccentro-osteochondrodysplasia). In 2 of these the disease was…