Germline BHD-Mutation Spectrum and Phenotype Analysis of a Large Cohort of Families with Birt-Hogg-Dubé Syndrome

Birt-Hogg-Dubé syndrome (BHD), a genodermatosis characterized by multiple hamartomas of the hair follicle (fibrofolliculoma), predisposes individuals to an increased risk of developing renal neoplasms and spontaneous pneumothorax. Previously, we localized the BHD locus (also known as FLCN) to chromo...

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Main Authors: Schmidt, Laura S., Nickerson, Michael L., Warren, Michelle B., Glenn, Gladys M., Toro, Jorge R., Merino, Maria J., Turner, Maria L., Choyke, Peter L., Sharma, Nirmala, Peterson, James, Morrison, Patrick, Maher, Eamonn R., Walther, McClellan M., Zbar, Berton, Linehan, W. Marston
Formáid: Artigo
Teanga:Inglês
Foilsithe: The American Society of Human Genetics 2005
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Articles
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1196440/
https://ncbi.nlm.nih.gov/pubmed/15852235
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