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Unveiling New Clinical and Genetic Insights in Ultra-Rare Intellectual Disability Phenotypes: A Study of a Turkish Cohort.

Clinical genetics - 1 Apr 2025

Turkyilmaz Ayberk, Sager Safiye Gunes, Terali Kerem, Kart Pinar Ozkan, Kamasak Tulay, Ayaz Akif, Cebi Alper Han, Cansu Ali

Abstract excerpt

Intellectual disability (ID) is defined as a severe impairment in reasoning, learning, and problem-solving abilities along with adaptive behavior that occurs before the age of 18 years. The present study aimed to present the clinical and genetic data of a cohort of Turkish pediatric patients diagnosed with the ultrarare (which only up to 20 cases having been reported in the relevant literature thus far) ID...

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PMID: 39659179
DOI: 10.1111/cge.14669

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