Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review

Antonina Fontana, Salvatore Mangano, Rosaria Nardello, Giuseppe Donato Mangano, Elisa Giorgio, Alfredo Brusco, Alfredo Brusco, Vincenzo Salpietro, Pasquale Striano, Vincenzo Antona

Risultato della ricerca: Articlepeer review

Abstract

KBG syndrome (OMIM #148050) is a rare autosomal dominantdisorder, typically characterized by macrodontia of the upper centralincisors, distinct craniofacial findings, short stature, and skeletalanomalies associated with neurological involvement including intellectual disability, behaviour difficulties, and epilepsy. KBG syndrome isassociated with mutations in ANKRD11 gene that plays a chromatinregulator role of histone acetylation and gene expression during neurogenesis in the embryonic brain.
Lingua originaleEnglish
pagine (da-a)151-154
Numero di pagine4
RivistaSEIZURE
Volume85
Stato di pubblicazionePublished - 2020

All Science Journal Classification (ASJC) codes

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  • ???subjectarea.asjc.2700.2728???

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