Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Shqipe Spahiu‐Konusha"'
Publikováno v:
Clinical Case Reports, Vol 9, Iss 4, Pp 2113-2116 (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.
Externí odkaz:
https://doaj.org/article/e2cbf8af9ef84495b295b799c5d7e42e
Publikováno v:
Clinical Case Reports
Clinical Case Reports, Vol 9, Iss 4, Pp 2113-2116 (2021)
Clinical Case Reports, Vol 9, Iss 4, Pp 2113-2116 (2021)
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.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7a66895beef20732b65cb2ac98bc703
http://europepmc.org/articles/PMC8077337
http://europepmc.org/articles/PMC8077337
Autor:
Ismaili–Jaha, Vlora1 (AUTHOR) vlora.jaha@uni-pr.edu, Spahiu‐Konusha, Shqipe2 (AUTHOR), Jaha, Art3 (AUTHOR)
Publikováno v:
Clinical Case Reports. Apr2021, Vol. 9 Issue 4, p2113-2116. 4p.