KBG Syndrome Latest Advances

Find the Latest Research About KBG Syndrome

Last Updated: 04/28/2026

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Found 181 publications

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

A Growth Chart for KBG Syndrome.

A Growth Chart for KBG Syndrome.

Journal: American journal of medical genetics. Part A
Published: November 07, 2025

KBG syndrome complicated with chylothorax in a newborn: a case report and literature review.

KBG syndrome complicated with chylothorax in a newborn: a case report and literature review.

Journal: Frontiers in pediatrics
Published: August 21, 2025

Novel ANKRD11 Mutation in KBG Syndrome: A diagnostic triad of hearing loss, radiological macrodontia and artificial intelligence-assisted facial phenotyping.

Novel ANKRD11 Mutation in KBG Syndrome: A diagnostic triad of hearing loss, radiological macrodontia and artificial intelligence-assisted facial phenotyping.

Journal: Sultan Qaboos University medical journal
Published: August 19, 2025

Prenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early-Onset Monogenic Disorders.

Prenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early-Onset Monogenic Disorders.

Journal: Prenatal diagnosis
Published: August 11, 2025

Case report of paroxysmal dystonia in a child with KBG syndrome: Expansion of the phenotype and utility of whole exome sequencing.

Case report of paroxysmal dystonia in a child with KBG syndrome: Expansion of the phenotype and utility of whole exome sequencing.

Journal: Medicine
Published: August 05, 2025

Two Years of Growth Hormone Therapy in a Child with Severe Short Stature Due to Overlap Syndrome with a Novel SETD5 Gene Mutation: Case Report and Review of the Literature.

Two Years of Growth Hormone Therapy in a Child with Severe Short Stature Due to Overlap Syndrome with a Novel SETD5 Gene Mutation: Case Report and Review of the Literature.

Journal: Genes
Published: June 30, 2025

KBG Syndrome: A Case Report and Longitudinal Assessment of Long-Acting Recombinant Human Growth Hormone Therapy.

KBG Syndrome: A Case Report and Longitudinal Assessment of Long-Acting Recombinant Human Growth Hormone Therapy.

Journal: Clinical case reports
Published: June 26, 2025

Clinical and genetic investigation of 4 children with microdeletion KBG syndrome

Clinical and genetic investigation of 4 children with microdeletion KBG syndrome

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: June 15, 2025
Showing 1-12 of 181

Last Updated: 04/28/2026