First Case Report of FOXN1 Haploinsufficiency in China and Literature Review

First Case Report of FOXN1 Haploinsufficiency in China and Literature Review

Objective  To analyze the clinical and immunological characteristics of the first case of FOXN1 haploinsufficiency in China and summarize the clinical characteristics of previous reported cases in other countries.  Methods  The whole-exome sequencing(WES) and Sanger sequencing were conducted to veri...

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Bibliographic Details
Main Authors: LI Wendao, GU Hao, WANG Wei, WU Runhui, SONG Hongmei
Format: Article
Language:zho
Published: Editorial Office of Medical Journal of Peking Union Medical College Hospital 2023-03-01
Series:Xiehe Yixue Zazhi
Subjects:
foxn1 mutation
combined immunodeficiency
syndromic features
Online Access:https://xhyxzz.pumch.cn/en/article/doi/10.12290/xhyxzz.2022-0040

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