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
Cyclotron resonance features in a three-dimensional topological insulators
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DOI: 10.1134/s1063782617110276
Abstract: The specific features of the cyclotron resonance in topological insulators of the Bi2Te3 family are analyzed. The energy spectrum of electron excitation on the surface of these compounds in a magnetic field has the C3V… read more here.
Keywords: features three; topological insulators; resonance features; harmonics ... See more keywords
Mitogenomic features of three species of Entomobryoidea (Collembola) from China.
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DOI: 10.11646/zootaxa.5120.2.8
Abstract: Three novel mitogenomes of Entomobryoidea were assembled and annotated. Sequences final lengths were 14,683 bp for Alloscopus bannaensis, 14,884 bp for Sinhomidia bicolor, and 14,794 bp for Coecobrya sp., including 13 PCGs, 22 tRNA, and… read more here.
Keywords: entomobryoidea collembola; features three; mitogenomic features; species entomobryoidea ... See more keywords
Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2016-0258
Abstract: Abstract Acromicric dysplasia (AD) and geleophysic dysplasia (GD) are rare skeletal dysplasias characterized by short stature, acromelia, joint contracture, hepatomegaly, hoarseness and respiratory distress. Compared with GD, AD presents with milder clinical and radiological features.… read more here.
Keywords: radiological features; fbn1 mutations; clinical radiological; features three ... See more keywords