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.

引用

页码：157 / 159

页数：3

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