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Page 1
Polydactyly with ectodermal defect, osteopenia, and mental delay.
Zannolli R, Buoni S, Viviano M, Macucci F, D'Ambrosio A, Livi W, Mazzei MA, Mazzei F, Sacco P, Volterrani L, Vonella G, Orsi A, Zappella M, Hayek J. Zannolli R, et al. Among authors: buoni s. J Child Neurol. 2008 Jun;23(6):683-9. doi: 10.1177/0883073807309778. Epub 2008 Jan 8. J Child Neurol. 2008. PMID: 18182642
Global developmental delay, osteopenia and ectodermal defect: a new syndrome.
Zannolli R, Buoni S, Macucci F, Santi MM, Miracco F, Pierluigi M, Mogni M, Piomboni P, Massafra MR, Galluzzi P, Livi W, Cuccia A, Margollicci MA, Pucci L, Sacco P, Molinelli M, Burlina AB, Swift JA, Fimiani M, Zappella M, Miracco C. Zannolli R, et al. Among authors: buoni s. Brain Dev. 2006 Apr;28(3):155-61. doi: 10.1016/j.braindev.2005.06.011. Epub 2005 Dec 20. Brain Dev. 2006. PMID: 16368207
Hypertelorism, ptosis, and myopia associated with drug-resistant epilepsy, mental delay, growth deficiency, ectodermal defects, and osteopenia.
Zannolli R, Buoni S, Macucci F, Miracco C, de Santi MM, Piomboni P, Bruni E, Malandrini A, Galluzzi P, Hadjistilianou T, Medaglini S, Mazzei MA, Sacco P, Terrosi-Vagnoli P, Volterrani L, Molinelli M, Burlina AB, Swift JA, Fimiani M. Zannolli R, et al. Among authors: buoni s. Am J Med Genet A. 2004 Jun 1;127A(2):212-6. doi: 10.1002/ajmg.a.20692. Am J Med Genet A. 2004. PMID: 15108215
Hypohidrotic ectodermal dysplasia and intrathoracic neuroblastoma.
Buoni S, Zannolli R, Macucci F, Molinelli M, Viviano M, Cuccia A, Hayek J, Volterrani L, de Santi MM, Miracco C, Fois A. Buoni S, et al. Pediatr Dermatol. 2007 May-Jun;24(3):267-71. doi: 10.1111/j.1525-1470.2007.00400.x. Pediatr Dermatol. 2007. PMID: 17542878
New neurocutaneous syndrome with defect in cell trafficking and melanosome pathway: the future challenge.
Zannolli R, Buoni S, de Santi M, Miracco C, Vonella G, Tassini M, Vivi A, Viviano M, Rossi T, Orsi A, Scarinci R, D'Ambrosio A, Livi W, Volterrani L, Fois A, Willems P, Hayek J. Zannolli R, et al. Among authors: buoni s. Brain Dev. 2008 Aug;30(7):461-8. doi: 10.1016/j.braindev.2007.12.008. Epub 2008 Jan 28. Brain Dev. 2008. PMID: 18226865
Being all further test negative, the patient exhibited an ultrastructural defect of the skin, identical to that previously described [Buoni S, Zannolli R, de Santi MM, Macucci F, Hayek J, Orsi A et al. Neurocutaneous syndrome with mental delay, autism, blockage in i …
Being all further test negative, the patient exhibited an ultrastructural defect of the skin, identical to that previously described [Buo …
Atypical BECTS and homocystinuria.
Buoni S, Di Bartolo RM, Molinelli M, Palmeri S, Zannolli R. Buoni S, et al. Neurology. 2003 Oct 28;61(8):1129-31. doi: 10.1212/01.wnl.0000090460.77321.b0. Neurology. 2003. PMID: 14581679
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