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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:
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