KBG Syndrome Latest Advances

Find the Latest Research About KBG Syndrome

Last Updated: 09/19/2026

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Found 191 publications

A Young Child With Global Developmental Delay and Epilepsy Secondary to a Novel Variant of KBG Syndrome.

A Young Child With Global Developmental Delay and Epilepsy Secondary to a Novel Variant of KBG Syndrome.

Journal: Cureus
Published: July 13, 2026

Oral and Maxillofacial Manifestations of KBG Syndrome: A Systematic Review.

Oral and Maxillofacial Manifestations of KBG Syndrome: A Systematic Review.

Journal: The Journal of craniofacial surgery
Published: June 17, 2026

Epigenetic Signatures in Monozygotic and Dizygotic Twins Discordant for Orofacial Clefts.

Epigenetic Signatures in Monozygotic and Dizygotic Twins Discordant for Orofacial Clefts.

Journal: medRxiv : the preprint server for health sciences
Published: April 20, 2026

KBG syndrome: A scoping review of electroclinical features of patients with epilepsy.

KBG syndrome: A scoping review of electroclinical features of patients with epilepsy.

Journal: Epileptic disorders : international epilepsy journal with videotape
Published: April 17, 2026

Recognizing KBG syndrome in pediatric practice: a case series highlighting phenotypic variability and diagnostic clues.

Recognizing KBG syndrome in pediatric practice: a case series highlighting phenotypic variability and diagnostic clues.

Journal: Frontiers in pediatrics
Published: April 08, 2026

Insights into ANKRD11-related epilepsy from 163 people.

Insights into ANKRD11-related epilepsy from 163 people.

Journal: Epilepsia
Published: March 15, 2026

Expanding the KBG syndrome phenotype through 2D facial morphometry, clinical and molecular characterization.

Expanding the KBG syndrome phenotype through 2D facial morphometry, clinical and molecular characterization.

Journal: Biomedical reports
Published: March 09, 2026

Prenatal Genetic and Sonographic Features of KBG Syndrome: A Cohort Study of 19 Fetal Cases.

Prenatal Genetic and Sonographic Features of KBG Syndrome: A Cohort Study of 19 Fetal Cases.

Journal: Prenatal diagnosis
Published: February 02, 2026

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype-Guided AI for ANKRD11 Missense Variants.

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype-Guided AI for ANKRD11 Missense Variants.

Journal: Clinical genetics
Published: January 23, 2026

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice.

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice.

Journal: American journal of medical genetics. Part A
Published: December 04, 2025

Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.

Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.

Journal: Genes
Published: November 30, 2025

Clinical features and management of 16q24.3 microdeletion KBG syndrome: literature review.

Clinical features and management of 16q24.3 microdeletion KBG syndrome: literature review.

Journal: Frontiers in pediatrics
Published: November 26, 2025
Showing 1-12 of 191

Last Updated: 09/19/2026