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Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.
Lin AE, Michot C, Cormier-Daire V, L'Ecuyer TJ, Matherne GP, Barnes BH, Humberson JB, Edmondson AC, Zackai E, O'Connor MJ, Kaplan JD, Ebeid MR, Krier J, Krieg E, Ghoshhajra B, Lindsay ME. Lin AE, et al. Among authors: lindsay me. Am J Med Genet A. 2016 Oct;170(10):2617-31. doi: 10.1002/ajmg.a.37739. Epub 2016 Jun 14. Am J Med Genet A. 2016. PMID: 27302097 Review.
Lack of resemblance between Myhre syndrome and other "segmental progeroid" syndromes warrants restraint in applying this classification.
Lin AE, Brunetti-Pierri N, Callewaert B, Cormier-Daire V, Douzgou S, Kinane TB, Lindsay ME, Starr LJ; Myhre Syndrome Foundation Professional Advisory Board. Lin AE, et al. Among authors: lindsay me. Geroscience. 2021 Apr;43(2):459-461. doi: 10.1007/s11357-021-00337-x. Epub 2021 Feb 25. Geroscience. 2021. PMID: 33630210 Free PMC article. No abstract available.
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects.
Cappuccio G, Brunetti-Pierri N, Clift P, Learn C, Dykes JC, Mercer CL, Callewaert B, Meerschaut I, Spinelli AM, Bruno I, Gillespie MJ, Dorfman AT, Grimberg A, Lindsay ME, Lin AE. Cappuccio G, et al. Among authors: lindsay me. Am J Med Genet A. 2022 May;188(5):1384-1395. doi: 10.1002/ajmg.a.62645. Epub 2022 Jan 13. Am J Med Genet A. 2022. PMID: 35025139
An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes.
Gheewalla GM, Luther J, Das S, Kreher JB, Scimone ER, Wong AW, Lindsay ME, Lin AE. Gheewalla GM, et al. Among authors: lindsay me. Am J Med Genet A. 2022 Oct;188(10):3084-3088. doi: 10.1002/ajmg.a.62915. Epub 2022 Jul 23. Am J Med Genet A. 2022. PMID: 35869926
92 results