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Expanding the neurological and behavioral phenotype of White-Sutton syndrome: a case report
BACKGROUND: White-Sutton (WHSUS) is a recently recognized syndrome caused by mutations of the POGZ gene. Approximately 70 patients have been reported to date. Intellectual disability, hypotonia, behavioral abnormalities, autism, and typical facial dysmorphisms are recognized as WHSUS features; howev...
Autores principales: | Donnarumma, Bernadette, Riccio, Maria Pia, Terrone, Gaetano, Palma, Melania, Strisciuglio, Pietro, Scala, Iris |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8254207/ https://www.ncbi.nlm.nih.gov/pubmed/34215294 http://dx.doi.org/10.1186/s13052-021-01101-9 |
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