Open AccessClinical profile and mutation analysis of xeroderma pigmentosum in Indian patients
Author(s) -
ParagM Tamhankar,
Shyla Ravindran,
Madhulika Kabra,
Chitra Nayak,
Mahendra M. Kura,
SwapnilA Sanghavi,
Rajesh K. Joshi,
Uday Khopkar,
Shruti V. Iyer,
Neerja Gupta,
VasundharaSridhar Chennuri
Publication year - 2015
Publication title -
indian journal of dermatology venereology and leprology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.514
H-Index - 45
eISSN - 0973-3922
pISSN - 0378-6323
DOI - 10.4103/0378-6323.148559
Subject(s) - xeroderma pigmentosum , mutation , gene , genetics , medicine , biology , dna repair
Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder characterized by cutaneous and ocular photosensitivity and an increased risk of developing cutaneous neoplasms. Progressive neurological abnormalities develop in a quarter of XP patients.
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