Birt-Hogg-Dubé Syndrome, a Genodermatosis Associated with Spontaneous Pneumothorax and Kidney Neoplasia, Maps to Chromosome 17p11.2

Birt-Hogg-Dubé syndrome (BHD), an inherited autosomal genodermatosis characterized by benign tumors of the hair follicle, has been associated with renal neoplasia, lung cysts, and spontaneous pneumothorax. To identify the BHD locus, we recruited families with cutaneous lesions and associated phenoty...

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Hlavní autoři: Schmidt, Laura S., Warren, Michelle B., Nickerson, Michael L., Weirich, Gregor, Matrosova, Vera, Toro, Jorge R., Turner, Maria L., Duray, Paul, Merino, Maria, Hewitt, Stephen, Pavlovich, Christian P., Glenn, Gladys, Greenberg, Cheryl R., Linehan, W. Marston, Zbar, Berton
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society of Human Genetics 2001
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226073/
https://ncbi.nlm.nih.gov/pubmed/11533913
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