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MeSH:(Severe Combined Immunodeficiency/*diagnosis/*genetics)

1.Analysis of clinical phenotype and variant of RAG1 gene in a child with B-cell-negative Severe Combined Immunodeficiency.

Juan HUANG ; Xiaofeng GUO ; Wei JI

Chinese Journal of Medical Genetics 2023;40(2):238-241

2.Clinical phenotype and gene diagnostic analysis of Omenn syndrome.

Yan-qiong WANG ; Yu-xia CUI ; Jie FENG

Chinese Journal of Pediatrics 2013;51(1):64-68

3.X-linked Severe Combined Immunodeficiency Syndrome: The First Korean Case with gamma c Chain Gene Mutation and Subsequent Genetic Counseling.

Eun Kyeong JO ; Satoru KUMAKI ; Du WEI ; Shigeru TSUCHIYA ; Hirokazu KANEGANE ; Chang Hwa SONG ; Ha Young NOH ; Young Ok KIM ; So Yeon KIM ; Hae Yul CHUNG ; Yoon Ha KIM ; Hoon KOOK

Journal of Korean Medical Science 2004;19(1):123-126

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