Progress in genetic research on pachydermoperiostosis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 105-107, 2016.
Article
in Chinese
| WPRIM
| ID: wpr-247725
ABSTRACT
Pachydermoperiostosis is a rare genetic disease characterized by finger clubbing, periostosis, cutis verticis gyrata and pachydermia accompanied by acroosteolysis and hyperhidrosis. Recently, two susceptibility genes, HPGD and SLCO2A1, have been identified, whose protein products are involved in the transportation of prostaglandin and metabolism underlying pachydermoperiostosis. Here the genetic basis of pachydermoperiostosis and its correlation with its clinical phenotype are reviewed, which may provide a reference for basic research and clinic diagnosis for the disease.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Osteoarthropathy, Primary Hypertrophic
/
Phenotype
/
Therapeutics
/
Hydroxyprostaglandin Dehydrogenases
/
Organic Anion Transporters
/
Diagnosis
/
Genetics
Type of study:
Diagnostic study
Limits:
Animals
/
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2016
Type:
Article
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