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Autor:
Adrien Bloch, Guillaume Couture, Bertrand Isidor, Manon Ricquebourg, Emmanuelle Bourrat, Dan Lipsker, Bruno Taillan, Alice Combier, Christine Chiaverini, Frédérique Moufle, Bruno Delobel, Pascal Richette, Corinne Collet
Publikováno v:
European journal of medical genetics. 66(2)
Primary hypertrophic osteoarthropathy (PHO), or pachydermoperiostosis, is characterized by a clinical association including digital clubbing, periostosis and pachydermia. SLCO2A1 and HPGD genes are both responsible for PHO. The pathology is classical