KBG Syndrome Latest Advances

Find the Latest Research About KBG Syndrome

Last Updated: 02/24/2026

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Found 174 publications

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

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

Deep insights and clinical benefits from the comprehensive cohort of fetal skeletal dysplasia in China.

Deep insights and clinical benefits from the comprehensive cohort of fetal skeletal dysplasia in China.

Journal: Journal of genetics and genomics = Yi chuan xue bao
Published: May 21, 2025

Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals.

Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals.

Journal: American journal of medical genetics. Part A
Published: April 26, 2025

Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review.

Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review.

Journal: American journal of medical genetics. Part A
Published: April 14, 2025

Tethered cord syndrome in a paediatric patient with KBG syndrome.

Tethered cord syndrome in a paediatric patient with KBG syndrome.

Journal: BMJ case reports
Published: March 05, 2025

ANKRD11 binding to cohesin suggests a connection between KBG syndrome and Cornelia de Lange syndrome.

ANKRD11 binding to cohesin suggests a connection between KBG syndrome and Cornelia de Lange syndrome.

Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: January 23, 2025

A novel heterozygous mutation of ANKRD11 causes KBG syndrome in a preterm neonate: a case report and literature review.

A novel heterozygous mutation of ANKRD11 causes KBG syndrome in a preterm neonate: a case report and literature review.

Journal: Frontiers in pediatrics
Published: January 22, 2025
Showing 1-12 of 174

Last Updated: 02/24/2026