Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome

British Journal of Dermatology

Volumn 167, Issue 2, 2012, Pages 440-442

  Lai Cheong, J E ^a   Sethuraman, G ^b   Ramam, M ^b   Stone, K ^a   Simpson, M A ^a   McGrath, J A ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

[No Author keywords available]

Indexed keywords

VANILLOID RECEPTOR 3;

ARTICLE; CASE REPORT; CHILD; EXOME; FOLLOW UP; GENE SEQUENCE; GENODERMATOSIS; HETEROZYGOSITY; HUMAN; INDIA; KERATOSIS; MALE; MISSENSE MUTATION; OLMSTED SYNDROME; PALMOPLANTAR KERATODERMA; PRIORITY JOURNAL; QUALITY OF LIFE; SCHOOL CHILD; WALKING DIFFICULTY; WEIGHT BEARING;

CHILD; HETEROZYGOTE; HUMANS; KERATODERMA, PALMOPLANTAR; MALE; MUTATION, MISSENSE; PEDIGREE; RECURRENCE; SYNDROME; TRPV CATION CHANNELS;

EID: 84864402775     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2012.11115.x     Document Type: Article

References (9)

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