Literature DB >> 8482753

Dyskeratosis congenita: a case report.

V N Sehgal1, D M Thappa, R C Sharma, S Jain, S N Bhattacharya.   

Abstract

Dyskeratosis congenita, an uncommon situation in females, is described in a 30-year-old woman. The expression of the disease was partial and was characterized by mottled pigmentation, nail dystrophy, palmoplantar keratoderma, and hyperhidrosis.

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Year:  1993        PMID: 8482753     DOI: 10.1111/j.1346-8138.1993.tb03830.x

Source DB:  PubMed          Journal:  J Dermatol        ISSN: 0385-2407            Impact factor:   4.005


  1 in total

1.  Identification of DKC1 gene mutation in an Indian patient.

Authors:  Parag M Tamhankar; Meina Zhao; Hirokazu Kanegane; Shubha R Phadke
Journal:  Indian J Pediatr       Date:  2010-01-20       Impact factor: 1.967

  1 in total

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