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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
Cantu syndrome (CS) is caused by gain-of-function (GOF) mutations in genes encoding pore-forming (Kir6.1, KCNJ8) and accessory… 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
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2011
2011
Background: Cantu syndrome is a rare condition which is characterized clinically by hypertrichosis, cardiomegaly and bone… Expand
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2007
2007
CONTEXT The PTH/PTHrP receptor type 1 (PTHR1) has a key role in endochondral ossification, which is emphasized by diseases… Expand
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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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1999
1999
Blomstrand osteochondrodysplasia (BOCD) is a rare lethal skeletal dysplasia characterized by accelerated endochondral and… Expand
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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
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