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Van der Woude syndrome with variable family presentation

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Laura Correia
a:1:{s:5:"en_US";s:32:"Centro Hospitalar do Baixo Vouga";}
Ana Ratola
Serviço de Neonatologia, Maternidade Daniel de Matos, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Vanda Conceição
Serviço de Cirurgia Pediátrica, Hospital Pediátrico de Coimbra, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal
Lígia Basto
Serviço de Neonatologia, Maternidade Daniel de Matos, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal
Keywords:
Congenital Abnormalities, Genetic Testing, Van der Woude Syndrome

Article Details

How to Cite
DOI:
https://doi.org/10.48687/lsj.139
Issue
Vol. 4 No. 1 (2023): JANEIRO | MARÇO
Section
Medical Images
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This work is licensed under a Creative Commons Attribution 4.0 International License.

References

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- Ghassibé M, Revencu N, Bayet B, Gillerot Y, Vanwijck R, Verellen-Dumoulin C, et al. Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene. J Med Genet. 2004;41:e15. doi: 10.1136/jmg.2003.009274

- Little HJ, Rorick NK, Su LI, Baldock C, Malhotra S, Jowitt T, et al. Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6. Hum Mol Genet. 2009;18:535-45. doi: 10.1093/hmg/ddn381. Erratum in: Hum Mol Genet. 2009; 15;18:1544.

Published: Mar 31, 2023