Publications

Demir Ş et al. A second family with Myhre syndrome caused by the same recurrent SMAD4 pathogenic variation (p.Arg496Cys).Mol Syndromol. 2023;14:175-80. PMID: 37064342.

Lin AE et al. Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023).Am J Med Genet A. 2024;194:e63638. PMID: 38779990.

Lin AE et al. Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome. Am J Med Genet A. 2020;182:328-37. PMID: 31837202.

Lindor NM et al. Mutations of SMAD4 account for both LAPS and Myhre syndromes.Am J Med Genet A. 2012;158A:1520-1. PMID: 22585601.

Meerschaut I et al. Myhre syndrome: a first familial recurrence and broadening of the phenotypic spectrum.Am J Med Genet A. 2019;179:2494-9. PMID: 31595668.

Starr LJ et al. Review of the pathologic characteristics in Myhre syndrome: gain-of-function pathogenic variants in SMAD4 cause a multisystem fibroproliferative response.Pediatr Dev Pathol. 2022;25:611-23. PMID: 36120950.

Vanbelleghem E et al. Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.Eur J Hum Genet. 2024;32:1086-94. PMID: 38997468.

Wood KA et al. SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline. Am J Hum Genet. 2024;111:1953-69. PMID: 39116879.

Yang DD et al. Natural history of Myhre syndrome.Orphanet J Rare Dis. 2022;17:304. PMID: 35907855.

Alankarage D et al. Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors. Differentiation. 2022;128:1-12. PMID: 36194927.

Cappuccio G et al. A pilot clinical trial with losartan in Myhre syndrome. Am J Med Genet A. 2021;185:702-9. PMID: 33369056.

Michot C et al. Myhre and LAPS syndromes: clinical and molecular review of 32 patients.Eur J Hum Genet. 2014;22:1272-7. PMID: 24424121.

Caputo V et al. A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. Am J Hum Genet. 2012;90:161-9. PMID: 22243968.

Garavelli L et al. Natural history and life-threatening complications in Myhre syndrome and review of the literature.Eur J Pediatr. 2016;175:1307-15. PMID: 27562837.

Spineli-Silva S et al. SMAD4 Pathogenic Variants in Seven New Brazilian Individuals With Myhre Syndrome Including a New Family.Am J Med Genet A. 2025;197(5):e63984. PMID: 39810609.