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Somatic and germline FOXP3 mosaicism in the mother of a boy with IPEX syndrome.
Lin, Yunting; Xu, Aijing; Zeng, Chunhua; Cheng, Jing; Li, Na; Niu, Huilin; Liu, Li; Li, Xiuzhen.
Affiliation
  • Lin Y; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou, China.
  • Xu A; Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou, China.
  • Zeng C; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou, China.
  • Cheng J; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou, China.
  • Li N; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou, China.
  • Niu H; Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou, China.
  • Liu L; Department of Pathology, Guangzhou Women and Children's Medical Center, Guangzhou, China.
  • Li X; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou, China.
Eur J Immunol ; 48(5): 885-887, 2018 05.
Article in En | MEDLINE | ID: mdl-29400909
Confirmatory Sanger sequencing of whole exome sequencing first identified a somatic and germline FOXP3 mosaicism with two different mutational events of c.210 + 1G > T and c.210 + 1G > A in the mother of a boy with IPEX syndrome.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Germ-Line Mutation / Genetic Diseases, X-Linked / Diabetes Mellitus, Type 1 / Diarrhea / Forkhead Transcription Factors / Immune System Diseases Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Male Language: En Journal: Eur J Immunol Year: 2018 Document type: Article Affiliation country: Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Germ-Line Mutation / Genetic Diseases, X-Linked / Diabetes Mellitus, Type 1 / Diarrhea / Forkhead Transcription Factors / Immune System Diseases Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Male Language: En Journal: Eur J Immunol Year: 2018 Document type: Article Affiliation country: Country of publication: