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Last Updated: 10/31/2025
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Found 171 publications
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
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.
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.
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.
Journal: American journal of medical genetics. Part A
Published: April 14, 2025
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.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: January 23, 2025
Life Beyond Childhood: Insight Into the Lived Experience of 91 Adults With KBG Syndrome Through an Online Patient/Caregiver-Reported Co-Produced Questionnaire.
Journal: Brain and behavior
Published: January 22, 2025
16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome.
Journal: Genes
Published: December 19, 2024
Last Updated: 10/31/2025