Identification of Two Novel ANKRD11 Mutations: Highlighting Incomplete Penetrance in KBG Syndrome

被引：2
|
作者：
Amllal, Nada [1 ,2 ]
Elalaoui, Siham Chafai [1 ,3 ]
Zerkaoui, Maria [3 ]
Chiguer, Amal [1 ,2 ]
Afif, Lamia [1 ,2 ]
Izgua, Amal Thimou [4 ]
Sefiani, Abdelaziz [1 ,2 ]
Lyahyai, Jaber [1 ]
机构：
[1] Univ Mohammed 5, Fac Med & Pharm, Genom Ctr Human Pathol, Res Team Genom & Mol Epidemiol Genet Dis, Rabat, Morocco
[2] Natl Inst Hlth, Dept Med Genet, Ibn Batouta Ave, nb 27, Rabat 10090, Morocco
[3] Med Genet Unit, CHU Ibn Sina, Rabat, Morocco
[4] CHU IBN SINA, Ctr Consultat & External Explorat, HER, Rabat, Morocco
来源：
ANNALS OF LABORATORY MEDICINE | 2024年 / 44卷 / 01期
关键词：
D O I：
10.3343/alm.2024.44.1.110
中图分类号：
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号：
1001 ;
摘要：
[No abstract available]
引用
收藏
页码：110 / 117
页数：8
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