| pubmed-article:18684681 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:18684681 | lifeskim:mentions | umls-concept:C0027651 | lld:lifeskim |
| pubmed-article:18684681 | lifeskim:mentions | umls-concept:C0241888 | lld:lifeskim |
| pubmed-article:18684681 | lifeskim:mentions | umls-concept:C0014511 | lld:lifeskim |
| pubmed-article:18684681 | lifeskim:mentions | umls-concept:C0027769 | lld:lifeskim |
| pubmed-article:18684681 | lifeskim:mentions | umls-concept:C0240182 | lld:lifeskim |
| pubmed-article:18684681 | lifeskim:mentions | umls-concept:C0039082 | lld:lifeskim |
| pubmed-article:18684681 | lifeskim:mentions | umls-concept:C0031437 | lld:lifeskim |
| pubmed-article:18684681 | lifeskim:mentions | umls-concept:C1524062 | lld:lifeskim |
| pubmed-article:18684681 | lifeskim:mentions | umls-concept:C0728939 | lld:lifeskim |
| pubmed-article:18684681 | lifeskim:mentions | umls-concept:C1533148 | lld:lifeskim |
| pubmed-article:18684681 | pubmed:issue | 5 | lld:pubmed |
| pubmed-article:18684681 | pubmed:dateCreated | 2008-9-8 | lld:pubmed |
| pubmed-article:18684681 | pubmed:abstractText | Familial leukonychia with sebaceous cysts is a rare autosomal dominant genetic condition, previously reported in four families. Molecular basis of the disorder is unknown. We report on a five-generation family with subtotal leukonychia and sebaceous cysts. Six individuals were affected, five women and one boy. One of the women exhibited a cervical ependymoma and bilateral multiple inoperable acoustic neuromas. These tumours have never been reported in association with leukonychia and may represent an uncommon severe complication of the syndrome. | lld:pubmed |
| pubmed-article:18684681 | pubmed:language | eng | lld:pubmed |
| pubmed-article:18684681 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18684681 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:18684681 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:18684681 | pubmed:issn | 1769-7212 | lld:pubmed |
| pubmed-article:18684681 | pubmed:author | pubmed-author:LévyNicolasN | lld:pubmed |
| pubmed-article:18684681 | pubmed:author | pubmed-author:MathieuMichèl... | lld:pubmed |
| pubmed-article:18684681 | pubmed:author | pubmed-author:DeramondHervé... | lld:pubmed |
| pubmed-article:18684681 | pubmed:author | pubmed-author:MorinGillesG | lld:pubmed |
| pubmed-article:18684681 | pubmed:author | pubmed-author:DesenclosChri... | lld:pubmed |
| pubmed-article:18684681 | pubmed:author | pubmed-author:JeanpetitCéci... | lld:pubmed |
| pubmed-article:18684681 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:18684681 | pubmed:volume | 51 | lld:pubmed |
| pubmed-article:18684681 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:18684681 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:18684681 | pubmed:pagination | 436-43 | lld:pubmed |
| pubmed-article:18684681 | pubmed:meshHeading | pubmed-meshheading:18684681... | lld:pubmed |
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| pubmed-article:18684681 | pubmed:meshHeading | pubmed-meshheading:18684681... | lld:pubmed |
| pubmed-article:18684681 | pubmed:meshHeading | pubmed-meshheading:18684681... | lld:pubmed |
| pubmed-article:18684681 | pubmed:meshHeading | pubmed-meshheading:18684681... | lld:pubmed |
| pubmed-article:18684681 | pubmed:meshHeading | pubmed-meshheading:18684681... | lld:pubmed |
| pubmed-article:18684681 | pubmed:meshHeading | pubmed-meshheading:18684681... | lld:pubmed |
| pubmed-article:18684681 | pubmed:articleTitle | Additional familial case of subtotal leukonychia and sebaceous cysts (Bauer syndrome): belong the nervous tumours to the phenotype? | lld:pubmed |
| pubmed-article:18684681 | pubmed:affiliation | Clinical Genetic Unit, University Hospital, Amiens, France. morin.gilles@chu-amiens.fr | lld:pubmed |
| pubmed-article:18684681 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:18684681 | pubmed:publicationType | Case Reports | lld:pubmed |