Frontiers | The Role of Growth Factors and Their Receptors in Genetic Disorders

The Role of Growth Factors and Their Receptors in Genetic Disorders

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ORIGINAL RESEARCH

Published on 05 Jun 2024

A novel IRF6 gene mutation impacting the regulation of TGFβ2-AS1 in the TGFβ pathway: A mechanism in the development of Van der Woude syndrome

Zhiyang Zhao
Renjie Cui
Haoshu Chi
Teng Wan
Duan Ma
Jin Zhang
Ming Cai

A novel IRF6 gene mutation impacting the regulation of TGFβ2-AS1 in the TGFβ pathway: A mechanism in the development of Van der Woude syndrome

doi 10.3389/fgene.2024.1397410

1,004 views

BRIEF RESEARCH REPORT

Published on 31 Aug 2023

Variable clinical expression of a Belgian TGFB3 founder variant suggests the presence of a genetic modifier

Melanie H. A. M. Perik
Emmanuela Govaerts
Steven Laga
Inge Goovaerts
Johan Saenen
Emeline Van Craenenbroeck
Josephina A. N. Meester
Ilse Luyckx
Inez Rodrigus
2 more
Bart L. Loeys

Variable clinical expression of a Belgian TGFB3 founder variant suggests the presence of a genetic modifier

doi 10.3389/fgene.2023.1251675

1,538 views
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Genetics of Common and Rare Diseases

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Frontiers in Pediatrics
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