Open AccessPierpont syndrome‐Report of a new patient
Author(s) -
Ismaili–Jaha Vlora,
SpahiuKonusha Shqipe,
Jaha Art
Publication year - 2021
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.3959
Subject(s) - medicine , scoliosis , exome sequencing , girl , pediatrics , surgery , mutation , genetics , biology , gene
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.