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Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway.
Am J Med Genet A. 2019 Mar;179(3):442-447. doi: 10.1002/ajmg.a.61045. Epub 2019 Jan 31.
Am J Med Genet A. 2019.
PMID: 30703280
Free PMC article.
Review.
X-linked hypohidrotic ectodermal dysplasia mutations in Brazilian families.
Visinoni AF, de Souza RL, Freire-Maia N, Gollop TR, Chautard-Freire-Maia EA.
Visinoni AF, et al.
Am J Med Genet A. 2003 Sep 15;122A(1):51-5. doi: 10.1002/ajmg.a.20276.
Am J Med Genet A. 2003.
PMID: 12949972
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Ectodermal dysplasias: clinical and molecular review.
Visinoni AF, Lisboa-Costa T, Pagnan NA, Chautard-Freire-Maia EA.
Visinoni AF, et al.
Am J Med Genet A. 2009 Sep;149A(9):1980-2002. doi: 10.1002/ajmg.a.32864.
Am J Med Genet A. 2009.
PMID: 19681154
Review.
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Update on ectodermal dysplasias clinical classification.
Pagnan NA, Visinoni ÁF.
Pagnan NA, et al. Among authors: visinoni af.
Am J Med Genet A. 2014 Oct;164A(10):2415-23. doi: 10.1002/ajmg.a.36616. Epub 2014 Aug 6.
Am J Med Genet A. 2014.
PMID: 25098893
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Molecular Pathway-Based Classification of Ectodermal Dysplasias: First Five-Yearly Update.
Peschel N, Wright JT, Koster MI, Clarke AJ, Tadini G, Fete M, Hadj-Rabia S, Sybert VP, Norderyd J, Maier-Wohlfart S, Fete TJ, Pagnan N, Visinoni AF, Schneider H.
Peschel N, et al. Among authors: visinoni af.
Genes (Basel). 2022 Dec 10;13(12):2327. doi: 10.3390/genes13122327.
Genes (Basel). 2022.
PMID: 36553593
Free PMC article.
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