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Case Reports
. 2024 Apr;194(4):e63507.
doi: 10.1002/ajmg.a.63507. Epub 2023 Dec 15.

Letter to the Editor regarding "New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant" by Kılıç and Koşukçu, "An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant" by Yüksel Ülker et al. and "Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome: A new patient with a novel variant and additional clinical findings" by Duzenli et al

Tarik Duzenli  1 , Abdullah Sezer  1   2 , Ferda Emriye Percin  1   3
Affiliations
Case Reports

Letter to the Editor regarding "New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant" by Kılıç and Koşukçu, "An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant" by Yüksel Ülker et al. and "Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome: A new patient with a novel variant and additional clinical findings" by Duzenli et al

Tarik Duzenli et al. Am J Med Genet A. 2024 Apr.
No abstract available

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References

REFERENCES

    1. Akawi, N., Ben-Salem, S., Lahti, L., Partanen, J., Ali, B. R., & Al-Gazali, L. (2016). A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene. American Journal of Medical Genetics Part A, 170, 2111-2118. https://doi.org/10.1002/ajmg.a.37741
    1. Duzenli, T., Sezer, A., Kayhan, G., Arslan, A. T., & Percin, F. E. (2023). Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome: A new patient with a novel variant and additional clinical findings. American Journal of Medical Genetics Part A, 191, 2232-2239. https://doi.org/10.1002/ajmg.a.63300
    1. Sezer, A., Savaş, A., Kayhan, G., Aslan, A. T., & Percin, F. E. (2020). Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Interactive e-posters. European Journal of Human Genetics, 28, 141-797. https://doi.org/10.1038/s41431-020-00739-z
    1. Kilic, E., & Kosukcu, C. (2023). New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant. American Journal of Medical Genetics Part A, 194(3), e63449. https://doi.org/10.1002/ajmg.a.63449
    1. Thauvin-Robinet, C., Duplomb-Jego, L., Limoge, F., Picot, D., Masurel, A., Terriat, B., Champilou, C., Minot, D., St-Onge, J., Kuentz, P., Duffourd, Y., Thevenon, J., Rivière, J. B., & Faivre, L. (2016). Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities. Clinical Genetics, 89, e1-e4. https://doi.org/10.1111/cge.12704

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