Identification of a novel mutation in the PTCH gene in a Korean family with naevoid basal cell carcinoma syndrome [2]

Clinical and Experimental Dermatology

Volumn 32, Issue 2, 2007, Pages 202-203

  Lee, Y W ^a   Roh, B H ^a   Ki, C S ^b   Park, Y L ^a   Shin, H B ^a   Lee, Y K ^a   Choi, T Y ^a   Whang, K U ^a  

^a Soonchunhyang University College of Medicine   (South Korea)

^b Sungkyunkwan University School of Medicine   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; BASAL CELL CARCINOMA; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; EXON; FEMALE; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE MAPPING; GENE MUTATION; GENETIC ASSOCIATION; HISTOPATHOLOGY; HUMAN; KOREA; LETTER; MALE; MELANOMA; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PTCH GENE; SEQUENCE HOMOLOGY;

ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; BASAL CELL NEVUS SYNDROME; CARCINOMA, BASAL CELL; FEMALE; GERM-LINE MUTATION; HUMANS; KOREA; MUTAGENESIS, INSERTIONAL; RECEPTORS, CELL SURFACE;

EID: 33846934518     PISSN: 03076938     EISSN: 13652230     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2006.02142.x     Document Type: Letter

References (4)

1. Gorlin RJ. Nevoid basal-cell carcinoma syndrome. Medicine (Baltimore) 1987; 66: 98-113.
2. Cohen MM Jr. Nevoid basal cell carcinoma syndrome: molecular biology and new hypotheses. Int J Oral Maxillofac Surg 1999; 28: 216-23.
3. Kimonis VE, Goldstein AM, Pastakia B et al. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 1997; 69: 299-308.
4. Evans DG, Ladusans EJ, Rimmer S et al. Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet 1993; 30: 460-4.