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Volumn 40, Issue 8, 2003, Pages
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De novo germline PTEN mutation in a man with Lhermitte-Duclos disease which arose on the paternal chromosome and was transmitted to his child with polydactyly and Wormian bones.
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Author keywords
[No Author keywords available]
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Indexed keywords
PHOSPHATASE;
PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE;
PTEN PROTEIN, HUMAN;
TUMOR SUPPRESSOR PROTEIN;
ADULT;
ARTICLE;
CASE REPORT;
CEREBELLUM TUMOR;
CHROMOSOME 10;
CLINICAL TRIAL;
CONGENITAL MALFORMATION;
CRANIAL SUTURE;
GANGLIONEUROMA;
GENETICS;
HUMAN;
MALE;
MULTICENTER STUDY;
MUTATION;
NEWBORN;
PEDIGREE;
POLYDACTYLY;
ADULT;
CEREBELLAR NEOPLASMS;
CHROMOSOMES, HUMAN, PAIR 10;
CRANIAL SUTURES;
GANGLIONEUROMA;
GERM-LINE MUTATION;
HUMANS;
INFANT, NEWBORN;
MALE;
PEDIGREE;
PHOSPHORIC MONOESTER HYDROLASES;
POLYDACTYLY;
PTEN PHOSPHOHYDROLASE;
TUMOR SUPPRESSOR PROTEINS;
MLCS;
MLOWN;
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EID: 0142248859
PISSN: None
EISSN: 14686244
Source Type: Journal
DOI: 10.1136/jmg.40.8.e92 Document Type: Article |
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Times cited : (18)
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References (0)
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