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Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report
BACKGROUND: KBG syndrome is a very rare autosomal dominant disorder, characterized by macrodontia, distinctive craniofacial findings, skeletal findings, post-natal short stature, and developmental delays, sometimes associated with seizures and EEG abnormalities. So far, there have been over 100 case...
Autores principales: | Alves, Rita Maria, Uva, Paolo, Veiga, Marielza F., Oppo, Manuela, Zschaber, Fabiana C. R., Porcu, Giampiero, Porto, Henrique P., Persico, Ivana, Onano, Stefano, Cuccuru, Gianmauro, Atzeni, Rossano, Vieira, Lauro C. N., Pires, Marcos V. A., Cucca, Francesco, Toralles, Maria Betânia P., Angius, Andrea, Crisponi, Laura |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6332862/ https://www.ncbi.nlm.nih.gov/pubmed/30642272 http://dx.doi.org/10.1186/s12881-019-0745-7 |
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