Unusual features in a patient with neurofibromatosis type 1: Multiple subcutaneous lipomas, a juvenile polyp in ascending colon, congenital intrahepatic portosystemic venous shunt, horseshoe kidney

American Journal of Medical Genetics

Volumn 127, Issue 3, 2004, Pages 298-301

  Oktenli, Cagatay ^a   Gul, Davut ^a   Deveci, M Salih ^a   Saglam, Mutlu ^a   Upadhyaya, Meena ^b   Thompson, Peter ^b   Consoli, Claudia ^b   Kocar, Ismail H ^a   Pilarski, Robert ^c   Zhou, Xiao Ping ^c   Eng, Charis ^c  

^a GULHANE SCHOOL OF MEDICINE   (Turkey)

^b CARDIFF UNIVERSITY   (United Kingdom)

^c OHIO STATE UNIVERSITY   (United States)

Author keywords

Congenital intrahepatic portosystemic venous shunt; Familial horseshoe kidney; Juvenile polyp; Lipomas; Neurofibromatosis type 1

Indexed keywords

PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE;

ADULT; ARTICLE; BANNAYAN RILEY RUVALCABA SYNDROME; CAFE AU LAIT SPOT; CASE REPORT; COWDEN SYNDROME; DIFFERENTIAL DIAGNOSIS; GENE MUTATION; HAMARTOMA; HEALTH CARE ORGANIZATION; HORSESHOE KIDNEY; HUMAN; JUVENILE POLYP; LENTIGO; LIPOMA; MALE; MULTIPLE CANCER; NEUROFIBROMATOSIS; PORTOSYSTEMIC ANASTOMOSIS; PRIORITY JOURNAL; SKIN DISEASE; VASCULAR DISEASE;

EID: 2542481117     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30008     Document Type: Article

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