PTEN hamartoma tumor syndromes in childhood: Description of two cases and a proposal for follow-up protocol

American Journal of Medical Genetics, Part A

Volumn 161, Issue 11, 2013, Pages 2902-2908

  Piccione, Maria ^a   Fragapane, Tiziana ^a   Antona, Vincenzo ^a   Giachino, Daniela ^b   Cupido, Francesco ^a   Corsello, Giovanni ^a  

^a UNIVERSITY OF PALERMO   (Italy)

^b UNIVERSITY OF TURIN   (Italy)

Author keywords

Bannayan Riley Ruvalcaba syndrome; Cowden syndrome; PTEN gene; PTEN Hamartoma tumor syndromes

Indexed keywords

GENOMIC DNA; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE;

ANAMNESIS; ARTICLE; CASE REPORT; CHILD; CHILDHOOD DISEASE; CLINICAL FEATURE; CLINICAL PROTOCOL; COGNITIVE DEFECT; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; EXCISION; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC SCREENING; HAMARTOMA; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; KINESIOTHERAPY; LIPOMATOSIS; MACROCEPHALY; MOLECULAR GENETICS; MUSCLE HYPOTONIA; PHENOTYPE; PHYSICAL DISEASE; PHYSIOTHERAPY; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; PTEN GENE; PTEN HAMARTOMA TUMOR SYNDROME; SCHOOL CHILD; SCOLIOSIS; SYNDROME;

BANNAYAN-RILEY-RUVALCABA SYNDROME; COWDEN SYNDROME; PTEN GENE; PTEN HAMARTOMA TUMOR SYNDROMES;

CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; FACIES; FEMALE; FOLLOW-UP STUDIES; HAMARTOMA SYNDROME, MULTIPLE; HUMANS; MUTATION; PHENOTYPE; PTEN PHOSPHOHYDROLASE;

EID: 84886244374     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36266     Document Type: Article

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