Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report

Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report

Abstract 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...

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Bibliographic Details
Main Authors: Rita Maria Alves, Paolo Uva, Marielza F. Veiga, Manuela Oppo, Fabiana C. R. Zschaber, Giampiero Porcu, Henrique P. Porto, Ivana Persico, Stefano Onano, Gianmauro Cuccuru, Rossano Atzeni, Lauro C. N. Vieira, Marcos V. A. Pires, Francesco Cucca, Maria Betânia P. Toralles, Andrea Angius, Laura Crisponi
Format: Article
Language:English
Published: BMC 2019-01-01
Series:BMC Medical Genetics
Subjects:
Whole exome sequencing
KBG syndrome
ANKRD11 gene
Generalized epilepsy with febrile seizures (GEFS+)
SCN9A gene
Online Access:http://link.springer.com/article/10.1186/s12881-019-0745-7

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http://link.springer.com/article/10.1186/s12881-019-0745-7

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