New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review

Potocki-Shaffer syndrome (PSS) is a rare non-recurrent contiguous gene deletion syndrome involving chromosome 11p11.2. Current literature implies a minimal region with haploinsufficiency of three genes, ALX4 (parietal foramina), EXT2 (multiple exostoses), and PHF21A (craniofacial anomalies, and inte...

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Detalles Bibliográficos
Autores principales: Trajkova, Slavica, Di Gregorio, Eleonora, Ferrero, Giovanni Battista, Carli, Diana, Pavinato, Lisa, Delplancq, Geoffroy, Kuentz, Paul, Brusco, Alfredo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7693731/
https://www.ncbi.nlm.nih.gov/pubmed/33126574
http://dx.doi.org/10.3390/brainsci10110788

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7693731/
https://www.ncbi.nlm.nih.gov/pubmed/33126574
http://dx.doi.org/10.3390/brainsci10110788

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