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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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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 |
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