Defining the phenotypical spectrum associated with variants in TUBB2A
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2019-106740
Abstract: Background Variants in genes belonging to the tubulin superfamily account for a heterogeneous spectrum of brain malformations referred to as tubulinopathies. Variants in TUBB2A have been reported in 10 patients with a broad spectrum of… read more here.
Keywords: brain malformations; phenotypical spectrum; variants tubb2a; spectrum ... See more keywords
The ever-expanding phenotypical spectrum of human TBX4 mutations: from toe to lung
Sign Up to like & getrecommendations! Published in 2019 at "European Respiratory Journal"
DOI: 10.1183/13993003.01504-2019
Abstract: Transcription factors of the T-box family are known to be involved in the regulation of embryonic developmental processes. T-box factor 4 (TBX4), one of its members first discovered in 1996, is expressed in a wide… read more here.
Keywords: tbx4; human tbx4; phenotypical spectrum; spectrum human ... See more keywords
The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant
Sign Up to like & getrecommendations! Published in 2023 at "Genes"
DOI: 10.3390/genes14040822
Abstract: Biallelic variants in the mitochondrial form of the tryptophanyl-tRNA synthetases (WARS2) can cause a neurodevelopmental disorder with movement disorders including early-onset tremor–parkinsonism syndrome. Here, we describe four new patients, who all presented at a young… read more here.
Keywords: novel; wars2 related; phenotypical spectrum; variant 015836 ... See more keywords