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

doi:10.1002/ajmg.a.64128

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

American journal of medical genetics. Part A - 1 Oct 2025

Avci Durmusalioglu Enise, Isik Esra, Turkut Tan Turkan, Dogan Yusuf Can, Nur Banu, Yeter Burcu, Sanri Aslihan, Uludag Alkaya Dilek, Ozturk Yilmaz Serife, Akalin Akcahan, Urel Demir Gizem, Yilmaz Aysegul, Sogukpinar Merve, Yilmaz Bayer Oznur, Giray Bozkaya Ozlem, Sezer Ozlem, Simsek Kiper Pelin Ozlem, Utine Gulen Eda, Tuysuz Beyhan, Cogulu Ozgur, Mihci Ercan, Atik Tahir

Abstract excerpt

KBG syndrome is a rare autosomal dominant disorder caused by ANKRD11 variants, characterized by distinctive craniofacial features, short stature, skeletal anomalies, and neurodevelopmental impairment. Regional studies, particularly from underrepresented populations, are essential to broaden the clinical and molecular spectrum of the syndrome. We retrospectively analyzed the clinical, molecular, and anthropometric...

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PMID: 40459271
DOI: 10.1002/ajmg.a.64128

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