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KBG syndrome in two patients from Egypt
Inas S M Sayed1, Mohamed S Abdel-Hamid2, Ghada M H Abdel-Salam3
1Orodental Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
American Journal of Medical Genetics. Part A
|March 30, 2020
Summary
KBG syndrome, a rare genetic disorder, can be identified by macrodontia, or large teeth. This study highlights a novel ANKRD11 gene variant in two Egyptian patients, expanding the understanding of KBG syndrome diagnosis.
Area of Science:
- Genetics
- Pediatrics
- Rare Diseases
Background:
- KBG syndrome is characterized by intellectual disability and congenital anomalies.
- Macrodontia is a potential diagnostic clue for KBG syndrome.
- Genetic causes include ANKRD11 gene variants or 16q24.3 microdeletions.
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