Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease

American Journal of Medical Genetics

Volumn 71, Issue 4, 1997, Pages 489-493

  Arch, E M ^a   Goodman, B K ^a   Van Wesep, R A ^a,b   Liaw, D ^c   Clarke, K ^a   Parsons, R ^c   McKusick, V A ^a   Geraghty, M T ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b SINAI HOSPITAL OF BALTIMORE   (United States)

^c Columbia University ^*  (United States)

Author keywords

10q23.2 q24.1; Bannayan Riley Ruvalcaba syndrome; Bannayan Zonana syndrome; Cowden disease; Interstitial deletion; Intestinal polyps; PTEN; Riley Smith syndrome; Ruvalcaba Myhre syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHILD; COWDEN SYNDROME; CYTOGENETICS; GENE DELETION; GENE MUTATION; HUMAN; INTESTINE POLYP; MALE; PHENOTYPE; PRIORITY JOURNAL; SYNDROME;

ADULT; ALLELES; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 10; CRANIOFACIAL ABNORMALITIES; GENE DELETION; GENES, TUMOR SUPPRESSOR; HAMARTOMA SYNDROME, MULTIPLE; HEMANGIOMA; HUMANS; INFANT; KARYOTYPING; LIPOMA; MALE; PHOSPHORIC MONOESTER HYDROLASES; PROTEIN-TYROSINE-PHOSPHATASE; PTEN PHOSPHOHYDROLASE; SYNDROME; TUMOR SUPPRESSOR PROTEINS;

EID: 0030770814     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19970905)71:4<489::aid-ajmg24>3.3.co;2-i     Document Type: Article

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