Article
Digital clubbing as the predominant manifestation of hypertrophic osteoarthropathy caused by pathogenic variants in HPGD in three Indian families.
Clinical dysmorphology - 1 Jul 2020
Radhakrishnan Periyasamy, Jacob Prince, Nayak Shalini S, Gowrishankar Kalpana, Prakash Soni Jai, Shukla Anju, Girisha Katta M
Abstract excerpt
15-Hydroxyprostaglandin dehydrogenase is NAD-dependent catalytic enzyme involved in prostaglandin biosynthesis pathway encoded by HPGD. The pathogenic variations in HPGD cause primary hypertrophic osteoarthropathy (PHO). The objective of the present study is to identify the genetic basis in patients with digital clubbing due to PHO. We performed detailed clinical and radiographic evaluation and exome sequencing...
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