DESCRIBE <http://purl.uniprot.org/citations/27161211>

Subject	Predicate	Object
http://purl.uniprot.org/citations/27161211	http://www.w3.org/1999/02/22-rdf-syntax-ns#type	http://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/27161211	http://www.w3.org/2000/01/rdf-schema#comment	" Background Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant familial disorder due to FH mutation. Despite a considerable increase in information about the genetic background, inter- and intrafamilial phenotypic variability/penetrance are not well documented. Objective To describe a large French HLRCC family and provide new data on penetrance and intrafamilial variability. Materials and methods The whole family was contacted for clinical examination, skin biopsy, uterine and kidney imagery and molecular analysis. Results The family included 22 members in 3 generations. The second generation consisted of 13 members who were older than the expected age of onset of disease manifestations. Of the 12 available members of this second generation, 6 (1 man and 5 women, aged 44-57 years) had a novel FH mutation. All had the same mild phenotype with cutaneous asymptomatic leiomyomas, uterine fibroids (if women) and no kidney tumor. The other 6 members not bearing the familial mutation had normal clinical and radiological findings. In this second generation, the penetrance was therefore complete, and there was no intrafamilial variability in the clinical expression of the mutation. Conclusion This study provides additional data on genotype/phenotype correlation, intrafamilial variability and penetrance that should help to improve prognosis and genetic counseling."xsd:string
http://purl.uniprot.org/citations/27161211	http://purl.org/dc/terms/identifier	"doi:10.1159/000445430"xsd:string
http://purl.uniprot.org/citations/27161211	http://purl.uniprot.org/core/author	"Chassaing N."xsd:string
http://purl.uniprot.org/citations/27161211	http://purl.uniprot.org/core/author	"Avril M.F."xsd:string
http://purl.uniprot.org/citations/27161211	http://purl.uniprot.org/core/author	"Legendre L."xsd:string
http://purl.uniprot.org/citations/27161211	http://purl.uniprot.org/core/author	"Cabaret O."xsd:string
http://purl.uniprot.org/citations/27161211	http://purl.uniprot.org/core/author	"Guillaud-Bataille M."xsd:string
http://purl.uniprot.org/citations/27161211	http://purl.uniprot.org/core/author	"Kramkimel N."xsd:string
http://purl.uniprot.org/citations/27161211	http://purl.uniprot.org/core/author	"Guinard E."xsd:string
http://purl.uniprot.org/citations/27161211	http://purl.uniprot.org/core/author	"Mazereeuw Hautier J."xsd:string
http://purl.uniprot.org/citations/27161211	http://purl.uniprot.org/core/date	"2016"xsd:gYear
http://purl.uniprot.org/citations/27161211	http://purl.uniprot.org/core/name	"Dermatology"xsd:string
http://purl.uniprot.org/citations/27161211	http://purl.uniprot.org/core/pages	"293-297"xsd:string
http://purl.uniprot.org/citations/27161211	http://purl.uniprot.org/core/title	"Complete Penetrance and Absence of Intrafamilial Variability in a Large Family with Hereditary Leiomyomatosis and Renal Cell Carcinoma."xsd:string
http://purl.uniprot.org/citations/27161211	http://purl.uniprot.org/core/volume	"232"xsd:string
http://purl.uniprot.org/citations/27161211	http://www.w3.org/2004/02/skos/core#exactMatch	http://purl.uniprot.org/pubmed/27161211
http://purl.uniprot.org/citations/27161211	http://xmlns.com/foaf/0.1/primaryTopicOf	https://pubmed.ncbi.nlm.nih.gov/27161211
http://purl.uniprot.org/uniprot/#_A0A0S2Z408-mappedCitation-27161211	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/27161211
http://purl.uniprot.org/uniprot/#_A0A0S2Z3S9-mappedCitation-27161211	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/27161211
http://purl.uniprot.org/uniprot/#_A0A0S2Z3W2-mappedCitation-27161211	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/27161211
http://purl.uniprot.org/uniprot/#_A0A0S2Z3X6-mappedCitation-27161211	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/27161211
http://purl.uniprot.org/uniprot/#_A0A0S2Z4C3-mappedCitation-27161211	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/27161211
http://purl.uniprot.org/uniprot/#_A0A0S2Z4H0-mappedCitation-27161211	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/27161211
http://purl.uniprot.org/uniprot/#_P07954-mappedCitation-27161211	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/27161211