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

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 immunod...

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Detalles Bibliográficos
Autores principales: Shangaris, Panicos, Ho, Alison, Marnerides, Andreas, George, Simi, AlAdnani, Mudher, Yau, Shu, Jansson, Mattias, Hoyle, Jacqueline, Ahn, Joo Wook, Ellard, Sian, Irving, Melita, Wellesley, Diana, Pasupathy, Dharmintra, Holder-Espinasse, Muriel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7908803/
https://www.ncbi.nlm.nih.gov/pubmed/33637067
http://dx.doi.org/10.1186/s12920-021-00901-6