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Pierpont syndrome‐Report of a new patient

Vlora Ismaili–Jaha, Shqipe Spahiu‐Konusha, Art Jaha

Clinical Case Reports · 2021

doi:10.1002/ccr3.3959 (opens in a new tab)

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Abstract

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.

Abstract licence: CC BY-NC

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