| Autor: |
Amllal, Nada, Elalaoui, Siham Chafai, Zerkaoui, Maria, Chiguer, Amal, Afif, Lamia, Izgua, Amal Thimou, Sefiani, Abdelaziz, Lyahyai, Jaber |
| Předmět: |
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| Zdroj: |
Annals of Laboratory Medicine; Jan2024, Vol. 44 Issue 1, p110-117, 8p |
| Abstrakt: |
This document is a letter to the editor published in the Annals of Laboratory Medicine. It discusses the identification of two novel ANKRD11 mutations in patients with KBG syndrome, a rare genetic condition. The mutations were found to be associated with typical features of the syndrome, including developmental delay, intellectual disability, and macrodontia of the upper central incisors. The study compared these findings with those of other studies and highlighted the incomplete penetrance of ANKRD11 mutations in KBG syndrome. The study was conducted in Morocco and approved by the Rabat Ethics Committee for Biomedical Research. [Extracted from the article] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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