Genetic analysis of a family with hereditary glomuvenous malformations

Australasian Journal of Dermatology

Volumn 48, Issue 3, 2007, Pages 170-173

  Ostberg, Anna ^a   Moreno, Gilberto ^a   Su, Tina ^a   Trisnowati, Niken ^a   Marchuk, Douglas ^b   Murrell, Dedee ^a  

^a ST GEORGE HOSPITAL   (Australia)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

FAP48; Founder effect; Glomangioma; Glomulin; Glomus tumour; Multiple hereditary glomangioma; Vascular anomaly; Vascular neoplasm

Indexed keywords

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BASE PAIRING; CHROMOSOME 1; CLINICAL ARTICLE; DNA DETERMINATION; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC IDENTIFICATION; GLOMUVENOUS MALFORMATION; HUMAN; MALE; SKIN MALFORMATION;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AUSTRALIA; BASE SEQUENCE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; DNA MUTATIONAL ANALYSIS; FEMALE; FOUNDER EFFECT; GLOMUS TUMOR; HUMANS; MALE; NEOPLASTIC SYNDROMES, HEREDITARY; PEDIGREE; SKIN NEOPLASMS;

EID: 34547605368     PISSN: 00048380     EISSN: 14400960     Source Type: Journal    
DOI: 10.1111/j.1440-0960.2007.00373.x     Document Type: Article

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