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Eur J Immunol. 2018 May;48(5):885-887. doi: 10.1002/eji.201747445. Epub 2018 Feb 23.

Somatic and germline FOXP3 mosaicism in the mother of a boy with IPEX syndrome.

Author information

1
Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou, China.
2
Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou, China.
3
Department of Pathology, Guangzhou Women and Children's Medical Center, Guangzhou, China.

Abstract

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.

KEYWORDS:

FOXP3; IPEX syndrome; Mosaicism; Sanger sequencing; Whole exome sequencing

PMID:
29400909
DOI:
10.1002/eji.201747445
[Indexed for MEDLINE]

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