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...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	American journal of human genetics 2005-06, Vol.76 (6), p.1023-1033
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Adenoma, Oxyphilic - genetics Adenoma, Oxyphilic - pathology Biological and medical sciences Chromosomes Cohort Studies Dermatology Exons Female Gene Frequency General aspects. Genetic counseling Genetic Testing Genetics Genotype & phenotype Germ-Line Mutation Haplotypes Heterozygote Humans Introns Kidney Neoplasms - genetics Kidney Neoplasms - pathology Kidneys Male Medical genetics Medical sciences Mutation Nuclear Family Patient Selection Pedigree Phenotype Proteins - genetics Proto-Oncogene Proteins Retrospective Studies Sequence Analysis, DNA Syndrome Tumor Suppressor Proteins Tumors of the skin and soft tissue. Premalignant lesions
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!