Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA

BACKGROUND: Purine-rich element binding protein A (PURA, MIM 600473), is considered the crucial phenocritical gene for an emerging 5q31.3 microdeletion syndrome. To date, at least seven affected individuals with overlapping 5q31.2q31.3 deletions, varying in size from 2.6 to 5 Mb, have been reported...

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Detalles Bibliográficos
Autores principales: Bonaglia, Maria Clara, Zanotta, Nicoletta, Giorda, Roberto, D’Angelo, Grazia, Zucca, Claudio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4650292/
https://www.ncbi.nlm.nih.gov/pubmed/26582469
http://dx.doi.org/10.1186/s13039-015-0193-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4650292/
https://www.ncbi.nlm.nih.gov/pubmed/26582469
http://dx.doi.org/10.1186/s13039-015-0193-9

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