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http://dx.doi.org/10.2340/actadv.v105.43168 | DOI Listing |
Acta Derm Venereol
May 2025
Department of Dermatology, Hospital Infantil Niño Jesús, Madrid, Spain.
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.
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