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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
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

Internet

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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