Genital lentigines in a 6-year-old boy with a family history of Cowden's disease: Clinical and genetic evidence of the linkage between Bannayan-Riley-Ruvacalba syndrome and Cowden's disease

Journal of Cutaneous Medicine and Surgery

Volumn 5, Issue 3, 2001, Pages 228-230

  Blum, Robin R ^a   Rahimizadeh, Afshin ^a   Kardon, Nataline ^b   Lebwohl, Mark ^a   Wei, Huachen ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b MOUNT SINAI MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; BANNAYAN RILEY RUVACALBA SYNDROME; CASE REPORT; CHILD; COWDEN SYNDROME; DENATURING GRADIENT GEL ELECTROPHORESIS; DNA SEQUENCE; EXON; FAMILY HISTORY; GEL ELECTROPHORESIS; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; GENODERMATOSIS; HUMAN; LENTIGO; LEUKOCYTE; MALE; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; CHILD; CRANIOFACIAL ABNORMALITIES; DIAGNOSIS, DIFFERENTIAL; GENE DELETION; GERM-LINE MUTATION; HAMARTOMA SYNDROME, MULTIPLE; HUMANS; LENTIGO; LINKAGE (GENETICS); MALE; MENTAL RETARDATION; PENILE DISEASES; PHOSPHORIC MONOESTER HYDROLASES; PTEN PHOSPHOHYDROLASE; SYNDROME; TUMOR SUPPRESSOR PROTEINS;

EID: 0034951959     PISSN: 12034754     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10227-001-0003-3     Document Type: Article

References (8)

1. Multiple hamartoma syndrome with osteosarcoma
2. Deletion of PTEN in a patient with Bannayan-Riley-Ruvacalba syndrome suggests allelism with Cowden's disease
3. Bannayan-Riley-Ruvacalba syndrome: Remaining three formerly recognized syndromes as one etiological entity
4. Lipomatosis, angiomatosis, and macrocephaly: A previously undescribed congenital syndrome
5. Clinicopathologic findings in the Bannayan-Riley-Ruvacalba syndrome
6. An overlap of Cowden's disease and Bannayan-Riley-Ruvacalba syndrome in the same family
7. PTEN is essential for embryonic development and tumour suppression
8. Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation