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Cantu syndrome

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

Related topics

Related topics

14 relations
ABCC9, CYS1043TYRAutosomal dominant inheritanceBicuspid aortic valveGingival Hypertrophy

Broader (2)

HypertrichosisOsteochondrodysplasias

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
The surprising complexity of KATP channel biology and of genetic diseases.
The ATP-sensitive K+ channel (KATP) is formed by the association of four inwardly rectifying K+ channel (Kir6.x) pore subunits… 
2019
2019
Cantu syndrome and hypopituitarism: implications for endocrine monitoring
Summary Cantu syndrome, or hypertrichotic osteochondrodysplasia, is a rare, autosomal dominant genetically heterogeneous disorder… 
2016
2016
KATP channel gain-of-function leads to increased myocardial L-type Ca2+ current and contractility in Cantu syndrome
Significance ATP-sensitive potassium (KATP) channels are present in cardiac and smooth muscle; when activated, they relax blood… 
2012
2012
Corrigendum to “Minimum requirements for application of ink dating methods based on solvent analysis in casework” [Forensic Sci. Int. 210 (2011) 52–62]
2011
2011
Cantu syndrome and lymphoedema
Three female patients with Cantu syndrome were studied, two of whom were adults presenting with the complication of lymphoedema… 
Review
2000
Review
2000
Blomstrand osteochondrodysplasia: three novel cases and histological evidence for heterogeneity
Abstract Blomstrand osteochondrodysplasia (BOCD) is a rare, autosomal recessive, lethal skeletal dysplasia characterized by… 
1996
1996
Aberrant CD2 expression in precursor‐B acute lymphoblastic leukemia of childhood
Aberrant CD2 expression in childhood precursor‐B ALL is rare and has recently been reported with an incidence of 3.6% in a study… 
1974
1974
Unclassifed osteochondrodysplasia in a 21-year-old woman.
1971
1971
[Special form of epimetaphyseal osteochondrodysplasia].
1946
1946
OSTEOCHONDRODYSTROPHIA DEFORMANS (MORQUIO'S DISEASE): Observations at Autopsy in One Case
IN 1941, we reported 3 cases of osteochondrodystrophia deformans1(eccentro-osteochondrodysplasia). In 2 of these the disease was… 
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