Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa

BACKGROUND: PURA syndrome is rare autosomal dominant condition characterized by moderate to severe neurodevelopmental delay with absence of speech in nearly all patients and lack of independent ambulation in many. Early‐onset problems include excessive hiccups, hypotonia, hypersomnolence, hypothermi...

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Detalles Bibliográficos
Autores principales: Cinquina, Valeria, Ciaccio, Claudia, Venturini, Marina, Masson, Riccardo, Ritelli, Marco, Colombi, Marina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7963414/
https://www.ncbi.nlm.nih.gov/pubmed/33275834
http://dx.doi.org/10.1002/mgg3.1562

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7963414/
https://www.ncbi.nlm.nih.gov/pubmed/33275834
http://dx.doi.org/10.1002/mgg3.1562

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