Cantu syndrome

Known as: Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome, Hypertrichotic osteochondrodysplasia 
 

Topic mentions per year

Topic mentions per year

1998-2017
012319982017

Papers overview

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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… (More)
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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… (More)
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2014
2014
Cantu syndrome is an autosomal dominant overgrowth syndrome associated with facial dysmorphism, congenital hypertrichosis, and… (More)
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2013
2013
BACKGROUND KATP channels, assembled from pore-forming (Kir6.1 or Kir6.2) and regulatory (SUR1 or SUR2) subunits, link metabolism… (More)
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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… (More)
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2011
2011
BACKGROUND Cantu syndrome is a rare condition which is characterized clinically by hypertrichosis, cardiomegaly and bone… (More)
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2011
2011
Cantu syndrome is a rare congenital disorder characterized by hypertrichosis, osteochondrodysplasia, cardiomegaly, macrocephaly… (More)
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2010
2010
We report on an African-American male with Cantu syndrome who required a pericardial window for a significant pericardial… (More)
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2005
2005
We report on a 16-year-old boy with a distal 1p36 deletion with some clinical features consistent with Cantu syndrome (OMIM… (More)
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Review
1998
Review
1998
Cantu syndrome is a rare condition whose main features are hypertrichosis, cardiac anomalies and wide ribs. Four children have… (More)
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