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Published in 2020 at "Stem cell research"
DOI: 10.1016/j.scr.2020.101789
Abstract: Patau syndrome is a rare congenital malformation syndrome due to the presence of an extra chromosome 13. In this paper, we report the generation of an induced pluripotent stem cell line from the fibroblasts isolated…
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Keywords:
patau syndrome;
stem cell;
pluripotent stem;
induced pluripotent ... See more keywords
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Published in 2021 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-243077
Abstract: A 35-month-old boy with non-mosaic Patau syndrome presented in diabetic ketoacidosis and was diagnosed with type 1 diabetes mellitus. A decision to treat this unanticipated medical problem was made in conjunction with the child’s parent,…
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Keywords:
patau syndrome;
child;
type diabetes;
diabetes mellitus ... See more keywords
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Published in 2023 at "Revista Paulista de Pediatria"
DOI: 10.1590/1984-0462/2023/41/2022027
Abstract: ABSTRACT Objective: To evaluate radiological (gestational and perinatal) and neonatal signs of patients with Patau syndrome and semilobar holoprosencephaly, as well as to report the association of both pathologies. Case description: This case report is…
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Keywords:
holoprosencephaly patau;
patau syndrome;
holoprosencephaly;