PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome

Germline mutations in the tumour suppressor gene PTEN have been implicated in two hamartoma syndromes that exhibit some clinical overlap, Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR). PTEN maps to 10q23 and encodes a dual specificity phosphatase, a substrate of which is phosphati...

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Vydané v:	Human molecular genetics Ročník 8; číslo 8; s. 1461
Hlavní autori:	Marsh, D J, Kum, J B, Lunetta, K L, Bennett, M J, Gorlin, R J, Ahmed, S F, Bodurtha, J, Crowe, C, Curtis, M A, Dasouki, M, Dunn, T, Feit, H, Geraghty, M T, Graham, Jr, J M, Hodgson, S V, Hunter, A, Korf, B R, Manchester, D, Miesfeldt, S, Murday, V A, Nathanson, K L, Parisi, M, Pober, B, Romano, C, Eng, C
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	England 01.08.1999
Predmet:	Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology Cells, Cultured Chromosome Deletion Chromosome Mapping Chromosomes, Human, Pair 10 - genetics Cohort Studies Craniofacial Abnormalities - genetics Family Health Female Genetic Carrier Screening Genetic Markers Genotype Germ-Line Mutation Hamartoma Syndrome, Multiple - genetics Hamartoma Syndrome, Multiple - pathology Heterozygote Humans Intellectual Disability - genetics Male Mutation Pedigree Phenotype Phosphoric Monoester Hydrolases - genetics PTEN Phosphohydrolase Syndrome Tumor Suppressor Proteins
ISSN:	0964-6906
On-line prístup:	Zistit podrobnosti o prístupe
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