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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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| Publicado no: | Brain Sci |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7693731/ https://ncbi.nlm.nih.gov/pubmed/33126574 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/brainsci10110788 |
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