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
em Zh
| WPRIM
| ID: wpr-247725
Biblioteca responsável:
WPRO
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.
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Osteoartropatia Hipertrófica Primária
/
Fenótipo
/
Terapêutica
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Hidroxiprostaglandina Desidrogenases
/
Transportadores de Ânions Orgânicos
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Diagnóstico
/
Genética
Tipo de estudo:
Diagnostic_studies
Limite:
Animals
/
Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2016
Tipo de documento:
Article