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    Nina Amália Brancia Pagnan, Átila Fernando Visinoni, Update on ectodermal dysplasias clinical classification, American Journal of Medical Genetics Part A, 2014, 164, 9
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    Átila F. Visinoni, Toni Lisboa-Costa, Nina A.B. Pagnan, Eleidi A. Chautard-Freire-Maia, Ectodermal dysplasias: Clinical and molecular review, American Journal of Medical Genetics Part A, 2009, 149A, 9
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    Giovanni Sorge, Lorenzo Pavone, Agata Polizzi, Laura Mauceri, Rosalia Maria Leonardi, Teresa Tripi, John M. Opitz, Another “new” form, the Palagonia type of acrofacial dysostosis in Sicilian family, American Journal of Medical Genetics, 1997, 69, 4
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    Hans Peter M. Freihofer, Sajjad Walji, Han G. Brunner, Ectodermal dysplasia, cleft lip/palate, and severe cutaneous and osseous syndactyly in a mentally retarded girl: A new multiple malformation syndrome, American Journal of Medical Genetics, 1997, 70, 3
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    Helena G. Ilyina, Dmitry S. Amoashy, Helena A. Grygory, “New” ectodermal dysplasia with mental retardation and syndactyly, American Journal of Medical Genetics, 1995, 58, 4
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    Marta Pinheiro, Newton Freire-Maia, Ectodermal dysplasias: A clinical classification and a causal review, American Journal of Medical Genetics, 1994, 53, 2
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    Roger L. Ladda, Jonathan Zonana, Jeanette C. Ramer, Maria J. Mascari, Peter K. Rogan, Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: A distinct syndrome, American Journal of Medical Genetics, 1993, 47, 4
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    M. Silengo, M. Lerone, G. Romeo, E. Calcagno, G. Martucciello, V. Jasonni, Uncombable hair, retinal pigmentary distrophy, dental anomalies, and brachydactyly: Report of a new patient with additional findings, American Journal of Medical Genetics, 1993, 47, 6