Category Ranking

98%

Total Visits

921

Avg Visit Duration

2 minutes

Citations

20

Article Abstract

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC12128627PMC
http://dx.doi.org/10.2340/actadv.v105.43168DOI Listing

Publication Analysis

Top Keywords

keratoderma-hypotrichosis-leukonychia totalis
4
totalis syndrome
4
syndrome case
4
case report
4
report exceptional
4
exceptional entity
4
keratoderma-hypotrichosis-leukonychia
1
syndrome
1
case
1
report
1

Similar Publications

Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome.

Hum Mol Genet

January 2015

Department of Dermatology, Peking University First Hospital, Beijing 100034, China Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing 100034, China Peking-Tsinghua Center for Life Sciences, Beijing 100871, China

Keratoderma-hypotrichosis-leukonychia totalis syndrome (KHLS) is an extremely rare, autosomal-dominant disorder characterized by severe skin hyperkeratosis, congenital alopecia and leukonychia totalis. The genetic defect underlying KHLS remained undetermined. By performing whole-exome sequencing in a family with KHLS, we identified a heterozygous mutation (c.

View Article and Find Full Text PDF