ACMG secondary findings 2.0
Sign Up to like & getrecommendations! Published in 2017 at "Genetics in Medicine"
DOI: 10.1038/gim.2017.27
Abstract: To the Editor: The authors of the recent American College of Medical Genetics and Genomics secondary findings recommendations1 are to be commended for the thoughtful and helpful update they have provided to the community. As… read more here.
Keywords: committee; acmg secondary; genetics; secondary findings ... See more keywords
Novel α0-Thalassemia Deletion Identified in an Indian Infant with Hb H Disease
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DOI: 10.1080/03630269.2020.1797774
Abstract: Abstract We report the identification of a large deletion of the α-globin gene cluster, which removed both HBA2 and HBA1 and included the region from HBZ to HBQ1 on chromosome 16 (16p13.3). The α0-thalassemia (α0-thal)… read more here.
Keywords: thal deletion; thalassemia; disease; novel thalassemia ... See more keywords
Early Onset Multiple Primary Tumors in Atypical Presentation of Cowden Syndrome Identified by Whole-Exome-Sequencing
Sign Up to like & getrecommendations! Published in 2018 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2018.00353
Abstract: A family with an aggregation of rare early onset multiple primary tumors has been managed in our oncogenetics department: the proband developed four early onset carcinomas between ages 31 and 33 years, including acral melanoma,… read more here.
Keywords: early onset; multiple primary; cowden syndrome; proband ... See more keywords
Investigation of the causal etiology in a patient with T-B+NK+ immunodeficiency
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2022.928252
Abstract: Newborn screening for severe combined immunodeficiency (SCID) has not only accelerated diagnosis and improved treatment for affected infants, but also led to identification of novel genes required for human T cell development. A male proband… read more here.
Keywords: cell; proband; etiology; immunodeficiency ... See more keywords