High penetrance of myeloid neoplasia with diverse clinical and cytogenetic features in three siblings with a familial GATA2 deficiency.
Sign Up to like & getrecommendations! Published in 2021 at "Cancer genetics"
DOI: 10.1016/j.cancergen.2021.04.002
Abstract: Pathogenic germ-line variants in GATA2 (GATA2-deficiency) can cause childhood myelodysplastic syndrome (MDS) and acute myeloid leukaemia (AML), and can be associated with distinct clinical syndromic features. However, penetrance and genotype-phenotype correlations are incompletely understood. Here… read more here.
Keywords: deficiency; features three; gata2 deficiency; myeloid ... See more keywords
Beta cell function and clinical course in three siblings with thiamine-responsive megaloblastic anemia (TRMA) treated with thiamine supplementation
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2016-0322
Abstract: Abstract Three siblings with thiamine-responsive megaloblastic anemia (TRMA) with a homozygous c.454delGGCATinsAT mutation in SLC19A2 are described. The index case presented at 14 months’ old with severe non-ketotic hyperglycemia, dehydration, seizures and sinovenous thrombosis. She… read more here.
Keywords: anemia trma; responsive megaloblastic; megaloblastic anemia; thiamine responsive ... See more keywords