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The patient received a complete clinical work\u2010up to exclude neurofibromatosis, tuberous sclerosis, or any other known neurocutaneous disease, with biochemistry, chromosome analysis and analysis of skin specimens. Being all the other tests not significant, two main ultrastructural defects were observed. The first was a blockage in intracellular vescicular trafficking with sparing of the mitochondria; the second an aberrant presence of melanosomes in vacuoles of several cell lines and abnormal transfer of these organelles to keratinocytes. This patient presented with a unique clinical picture distinct from neurofibromatosis or tuberous sclerosis or any other known neurocutaneous disease. The ultrastructural abnormalities suggested a defect in cell trafficking involving several cell lines and compartments.<\/jats:p>","DOI":"10.1111\/j.1468-1331.2006.01305.x","type":"journal-article","created":{"date-parts":[[2006,6,12]],"date-time":"2006-06-12T11:13:17Z","timestamp":1150110797000},"page":"842-851","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Neurocutaneous syndrome with mental delay, autism, blockage in intracellular vescicular trafficking and melanosome defects"],"prefix":"10.1111","volume":"13","author":[{"given":"S.","family":"Buoni","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Zannolli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"De 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