A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops: a case report

A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops: a case report

Abstract Background Fetal hydrops is excessive extravasation of fluid into the third space in a fetus, which could be due to a wide differential of underlying pathology. IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome primarily affects males. It is a monogenic primary...

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Bibliographic Details
Main Authors: Panicos Shangaris, Alison Ho, Andreas Marnerides, Simi George, Mudher AlAdnani, Shu Yau, Mattias Jansson, Jacqueline Hoyle, Joo Wook Ahn, Sian Ellard, Melita Irving, Diana Wellesley, Dharmintra Pasupathy, Muriel Holder-Espinasse
Format: Article
Language:English
Published: BMC 2021-02-01
Series:BMC Medical Genomics
Subjects:
IPEX syndrome
FOXP3
Fetal hydrops
In utero transfusion
Online Access:https://doi.org/10.1186/s12920-021-00901-6

Internet

https://doi.org/10.1186/s12920-021-00901-6

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