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Cantu syndrome

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

Papers overview

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2020
2020
The ATP-sensitive K+ channel (KATP) is formed by the association of four inwardly rectifying K+ channel (Kir6.x) pore subunits… 
2019
2019
Summary Cantu syndrome, or hypertrichotic osteochondrodysplasia, is a rare, autosomal dominant genetically heterogeneous disorder… 
2017
2017
The complex disorder Cantu syndrome (CS) arises from gain-of-function mutations in either KCNJ8 or ABCC9, the genes encoding the… 
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… 
Review
2000
Review
2000
Abstract Blomstrand osteochondrodysplasia (BOCD) is a rare, autosomal recessive, lethal skeletal dysplasia characterized by… 
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… 
1946
1946
IN 1941, we reported 3 cases of osteochondrodystrophia deformans1(eccentro-osteochondrodysplasia). In 2 of these the disease was…