{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T23:31:46Z","timestamp":1788305506825,"version":"build-2803163510"},"reference-count":27,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2006,10]]},"abstract":"<jats:p>Neurofibromatosis 1 (NF1) is a tumour suppressor gene syndrome characterized by multiple cutaneous and plexiform neurofibromas. Focal osseous abnormalities, short stature, and decreased bone mineral density are also frequent in people with NF1. We measured serum 25-hydroxyvitamin D concentrations in 55 patients with NF1 and 58 healthy controls, and correlated the findings in the patients with NF1 with their estimated number of dermal neurofibromas. Geometric mean (SD) serum 25-hydroxyvitamin D concentration was 14.0 (1.6) ng\/mL among the patients with NF1 compared with 31.4 (1.7) ng\/mL among healthy controls (p&lt;&lt;0.0001). The serum vitamin D concentration and number of dermal neurofibromas reported by patients with NF1 were inversely correlated (Spearman\u2019s \u03c1\u200a=\u200a\u22120.572, p&lt;0.00001). The occurrence of low serum vitamin D concentrations in people with NF1, especially those with many dermal neurofibromas, may provide new pathogenic insights and have important therapeutic implications.<\/jats:p>","DOI":"10.1136\/jmg.2006.041095","type":"journal-article","created":{"date-parts":[[2006,3,29]],"date-time":"2006-03-29T20:34:13Z","timestamp":1143664453000},"page":"810-813","source":"Crossref","is-referenced-by-count":69,"title":["Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1"],"prefix":"10.1136","volume":"43","author":[{"given":"M","family":"Lammert","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J M","family":"Friedman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H J","family":"Roth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R E","family":"Friedrich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Kluwe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Atkins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Schooler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V-F","family":"Mautner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2006,3,29]]},"reference":[{"key":"2025101721553311000_43.10.810.1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90253-B"},{"key":"2025101721553311000_43.10.810.2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90252-A"},{"key":"2025101721553311000_43.10.810.3","doi-asserted-by":"publisher","DOI":"10.1126\/science.2134734"},{"key":"2025101721553311000_43.10.810.4","unstructured":"Huson S . Neurofibromatosis 1: a clinical and genetical overview. In Huson S, Hughes R, eds. The neurofibromatoses:a pathogenetic and clinical overview. London Chapman and Hall Medical, 1994:160\u2013203."},{"key":"2025101721553311000_43.10.810.5","unstructured":"Friedman JM, Gutmann DH, MacCollin M , Riccardi VM. eds. Neurofibromatosis: phenotype, natural history, and pathogenesis. Baltimore: Johns Hopkins University Press, 1999."},{"key":"2025101721553311000_43.10.810.6","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.12.933"},{"key":"2025101721553311000_43.10.810.7","doi-asserted-by":"publisher","DOI":"10.1007\/s001980170032"},{"key":"2025101721553311000_43.10.810.8","unstructured":"Brunetti-Pierri N , Phan K , Carter S , Lewis RA, Plon S , Ellis KJ, O\u2019Brian SE, Lee B . Generalized osteopenia in neurofibromatosis type 1 patients points to an underlying disorder of skeletal homeostasis and mineralization. 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