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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… Expand
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2018
2018
Cantu syndrome (CS) is characterized by multiple vascular and cardiac abnormalities including vascular dilation and tortuosity… Expand
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2016
2016
Significance ATP-sensitive potassium (KATP) channels are present in cardiac and smooth muscle; when activated, they relax blood… Expand
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2015
2015
BACKGROUND Gain-of-function (GOF) mutations in the KATP channel subunits Kir6.1 and SUR2 cause Cantu syndrome (CS), a disease… Expand
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2011
2011
Three female patients with Cantu syndrome were studied, two of whom were adults presenting with the complication of lymphoedema… Expand
2007
2007
CONTEXT The PTH/PTHrP receptor type 1 (PTHR1) has a key role in endochondral ossification, which is emphasized by diseases… Expand
2007
2007
retinoic acid receptor fusion oncoproteins generate acute promyelocytic leukemia? Cancer Cell 2006; 9: 73–74. 4 Cools J, DeAngelo… Expand
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Highly Cited
1999
Highly Cited
1999
Blomstrand osteochondrodysplasia (BOCD) is a rare lethal skeletal dysplasia characterized by accelerated endochondral and… Expand
1996
1996
Aberrant CD2 expression in childhood precursor‐B ALL is rare and has recently been reported with an incidence of 3.6% in a study… Expand
1946
1946
IN 1941, we reported 3 cases of osteochondrodystrophia deformans1(eccentro-osteochondrodysplasia). In 2 of these the disease was… Expand