INTRONIC MUTATION IN THE DNMT3B GENE: CAUSE OF DELAY IN DIAGNOSIS OF A PATIENT WITH ICF1 SYNDROME

被引：0
|
作者：
Shirkani, Afshin [1 ]
Kiaee, Fatemeh [2 ]
Hafezi, Nasim [3 ]
Bakkach, Joaira [4 ]
Zaki-Dizaji, Majid [5 ]
Azizi, Gholamreza [6 ]
机构：
[1] Bushehr Univ Med Sci, Sch Med, Allergy & Clin Immunol Dept, Bushehr, Iran
[2] Shahid Beheshti Univ Med Sci, Sch Med, Dept Immunol, Student Res Comm, Tehran, Iran
[3] Mazandaran Univ Med Sci, Sch Med, Dept Immunol, Sari, Iran
[4] Abdelmalek Essaadi Univ, Fac Sci & Tech Tangier, Biomed Genom & Oncogenet Res Lab, Tetouan, Morocco
[5] Legal Med Org, Legal Med Res Ctr, Tehran, Iran
[6] Alborz Univ Med Sci, Noncommunicable Dis Res Ctr, Karaj, Iran
来源：
CURRENT ALLERGY & CLINICAL IMMUNOLOGY | 2020年 / 33卷 / 3-4期
关键词：
delay in diagnosis; ICF1; syndrome; DNMT3B; DISEASE;
D O I：
暂无
中图分类号：
R392 [医学免疫学];
学科分类号：
100102 ;
摘要：
Patients with immunodeficiency, centromeric instability and facial-anomalies syndrome present with heterogeneous manifestations that lead to misdiagnosis. In this article we report on a 13-year-old boy who was treated as an isolated endocrinopathy with a diagnosis delay of six years and an intronic mutation in the DNMT3B gene.
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收藏
页码：157 / 159
页数：3
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