Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient
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DOI: 10.1111/cge.13700
Abstract: Disease‐causing variants in TGFB3 cause an autosomal dominant connective tissue disorder which is hard to phenotypically delineate because of the small number of identified cases. The purpose of this retrospective cross‐sectional multicenter study is to… read more here.
Keywords: disease causing; homozygous patient; tgfb3 disease; disease ... See more keywords