Cargando…
Expanding the PURA syndrome phenotype with manifestations in a Japanese female patient
We report on a 15-year-old Japanese female patient with hypotonia and global developmental delay from the neonatal period who was revealed to carry a known pathogenic PURA variant (NM_005859.5:c.697_699del, p.Phe233del) by whole-exome sequencing. She had previously unreported clinical features, incl...
Autores principales: | Fukuda, Yuya, Kudo, Yoshimasa, Saito, Makoto, Kaname, Tadashi, Oota, Tohru, Shoji, Reikichi |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9019084/ https://www.ncbi.nlm.nih.gov/pubmed/35440576 http://dx.doi.org/10.1038/s41439-022-00189-7 |
Ejemplares similares
-
A rare pathogen Raoultella planticola caused urinary tract infection in child with congenital anomalies of kidney and urinary tract: case report
por: Fukuda, Yuya, et al.
Publicado: (2021) -
Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa
por: Cinquina, Valeria, et al.
Publicado: (2020) -
GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy
por: Okano, Satomi, et al.
Publicado: (2023) -
Expansion of PURA-Related Phenotypes and Discovery of a Novel PURA Variant: A Case Report
por: Boczek, Nicole J., et al.
Publicado: (2020) -
Pura imagen /
Publicado: (2012)