Pierpont syndrome‐Report of a new patient
oleh: Vlora Ismaili–Jaha, Shqipe Spahiu‐Konusha, Art Jaha
| Format: | Article |
|---|---|
| Diterbitkan: | Wiley 2021-04-01 |
Deskripsi
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.