KBG syndrome (OMIM #148050) is a rare autosomal dominant disorder, typically characterized by macrodontia of the upper central incisors, distinct craniofacial findings, short stature, and skeletal anomalies associated with neurological involvement including intellectual disability, behaviour difficulties, and epilepsy. KBG syndrome is associated with mutations in ANKRD11 gene that plays a chromatin regulator role of histone acetylation and gene expression during neurogenesis in the embryonic brain.

Nardello R, Mangano GD, Antona V, Fontana A, Striano P, Giorgio E, et al. (2021). Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review. SEIZURE, 85, 151-154 [10.1016/j.seizure.2020.12.017].

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

Nardello R
;
Mangano GD;Antona V;Fontana A;Mangano S;
2021-02-01

Abstract

KBG syndrome (OMIM #148050) is a rare autosomal dominant disorder, typically characterized by macrodontia of the upper central incisors, distinct craniofacial findings, short stature, and skeletal anomalies associated with neurological involvement including intellectual disability, behaviour difficulties, and epilepsy. KBG syndrome is associated with mutations in ANKRD11 gene that plays a chromatin regulator role of histone acetylation and gene expression during neurogenesis in the embryonic brain.
feb-2021
Nardello R, Mangano GD, Antona V, Fontana A, Striano P, Giorgio E, et al. (2021). Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review. SEIZURE, 85, 151-154 [10.1016/j.seizure.2020.12.017].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10447/472713
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