Pierpont syndrome‐Report of a new patient

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.

Detalles Bibliográficos
Autores principales: Ismaili–Jaha, Vlora, Spahiu‐Konusha, Shqipe, Jaha, Art
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077337/
https://www.ncbi.nlm.nih.gov/pubmed/33936649
http://dx.doi.org/10.1002/ccr3.3959
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author Ismaili–Jaha, Vlora
Spahiu‐Konusha, Shqipe
Jaha, Art
author_facet Ismaili–Jaha, Vlora
Spahiu‐Konusha, Shqipe
Jaha, Art
author_sort Ismaili–Jaha, Vlora
collection PubMed
description 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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spelling pubmed-80773372021-04-29 Pierpont syndrome‐Report of a new patient Ismaili–Jaha, Vlora Spahiu‐Konusha, Shqipe Jaha, Art Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2021-02-18 /pmc/articles/PMC8077337/ /pubmed/33936649 http://dx.doi.org/10.1002/ccr3.3959 Text en © 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
Ismaili–Jaha, Vlora
Spahiu‐Konusha, Shqipe
Jaha, Art
Pierpont syndrome‐Report of a new patient
title Pierpont syndrome‐Report of a new patient
title_full Pierpont syndrome‐Report of a new patient
title_fullStr Pierpont syndrome‐Report of a new patient
title_full_unstemmed Pierpont syndrome‐Report of a new patient
title_short Pierpont syndrome‐Report of a new patient
title_sort pierpont syndrome‐report of a new patient
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077337/
https://www.ncbi.nlm.nih.gov/pubmed/33936649
http://dx.doi.org/10.1002/ccr3.3959
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