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

页码：110 / 117

页数：8

共 11 条

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