Atypical phenotype of a patient with Bardet–Biedl syndrome type 4
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1869
Abstract: Bardet–Biedl syndrome (BBS) is a multisystemic disorder characterized by rod–cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malformations, and renal abnormalities. There is a large clinical and also genetic… read more here.
Keywords: bardet biedl; atypical phenotype; phenotype patient; biedl syndrome ... See more keywords
A unique clinical phenotype of a patient bearing a newly identified deletion mutation in the PSENEN gene along with the pathogenic serum desmoglein‐1 antibody
Sign Up to like & getrecommendations! Published in 2018 at "Clinical and Experimental Dermatology"
DOI: 10.1111/ced.13326
Abstract: these cells were strongly positive for CD123, CD138, CD33 and myeloperoxidase, which are markers that are frequently expressed on leukaemia blast cells (Fig. 2b–d). A bone marrow biopsy confirmed the suspected diagnosis of AML (subtype… read more here.
Keywords: blast cells; phenotype patient; clinical phenotype; bearing newly ... See more keywords