Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient.

doi:10.1111/cge.13700

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Article

Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient.

Clinical genetics - 1 May 2020

Marsili Luisa, Overwater Eline, Hanna Nadine, Baujat Geneviève, Baars Marieke J H, Boileau Catherine, Bonneau Dominique, Brehin Anne Claire, Capri Yline, Cheung Ho Y, Dulfer Eelco, Gerard Marion, Gouya Laurent, Hilhorst-Hofstee Yvonne, Houweling Arjan C, Isidor Bertrand, Le Gloan Lauriane, Menke Leonie A, Odent Sylvie, Morice-Picard Fanny, Vanlerberghe Clemence, Voorhoeve Els, van Tintelen J Peter, Maugeri Alessandra, Arnaud Pauline

Abstract excerpt

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 elucidate the genotype and phenotype in an international cohort of TGFB3 patients. Eleven (eight novel) TGFB3 disease-causing variants were identified in 32...

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PMID: 31898322
DOI: 10.1111/cge.13700

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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