Long‐Read Sequencing Identifying the Genetic Complexity of Congenital Adrenal Hyperplasia in the Pedigree
Sign Up to like & getrecommendations! Published in 2024 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.70029
Abstract: High sequence homology between CYP21A2 and CYP21A1P poses challenges to genetic diagnosis of congenital adrenal hyperplasia (CAH) due to 21‐hydroxylase deficiency (21‐OHD). Traditional genetic testing is unable to provide an accurate diagnosis due to the… read more here.
Keywords: adrenal hyperplasia; genetic complexity; congenital adrenal; long read ... See more keywords
Pathogenic Mechanisms of Systemic Mastocytosis: Unraveling the Genetic Complexity, Bone Marrow Microenvironment, and Clinical Challenges
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DOI: 10.1111/ejh.70004
Abstract: Systemic mastocytosis (SM) was historically classified as a myeloproliferative neoplasm, but it was redefined in 2016 as a distinct entity in the World Health Organization classification. Characterized by abnormal mast cell (MC) proliferation, SM can… read more here.
Keywords: bone marrow; genetic complexity; marrow microenvironment; systemic mastocytosis ... See more keywords
Phenotypic and Genetic Complexity in Pediatric Movement Disorders
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DOI: 10.3389/fgene.2022.829558
Abstract: The complex and evolving nature of clinical phenotypes have made genetically diagnosing pediatric patients with movement disorders difficult. Here, we describe this diverse complexity in the clinical and genetic features of a pediatric cohort examined… read more here.
Keywords: movement disorders; pediatric movement; movement; genetic complexity ... See more keywords