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Pierpont syndrome-Report of a new patient
Vlora Ismaili-Jaha1, Shqipe Spahiu-Konusha2, Art Jaha3
1Department of Pediatric Gastroenterology Faculty of Medical Sciences University of Prishtina Prishtina Albania.
Clinical Case Reports
|May 3, 2021
Abstract:
We report on a 6-year-old girl with Pierpont Syndrome who was diagnosed using the whole-exome sequencing technique. In addition to commonly recognized traits, our patient had scoliosis, a feature reported only in one other occasion.
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