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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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Dades bibliogràfiques
Publicat a:Mol Cytogenet
Autors principals: Bonaglia, Maria Clara, Zanotta, Nicoletta, Giorda, Roberto, D’Angelo, Grazia, Zucca, Claudio
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2015
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4650292/
https://ncbi.nlm.nih.gov/pubmed/26582469
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0193-9
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