Double Trouble: Homozygous Dominant Mutations and Hair Loss in Pachyonychia Congenita
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چکیده
منابع مشابه
Double trouble: homozygous dominant mutations and hair loss in pachyonychia congenita.
In this issue, Wilson et al. report the first case of homozygous dominant negative mutations in KRT17 in pachyonychia congenita (PC). Homozygous dominant negative mutations are a rare occurrence in keratin disorders and this is a first report in PC. These mutations cause a distinct sub-phenotype of PC that is more severe in the offspring of affected parents and has associated alopecia.
متن کاملHomozygous dominant missense mutation in keratin 17 leads to alopecia in addition to severe pachyonychia congenita.
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متن کاملPaternal germ cell mosaicism in autosomal dominant pachyonychia congenita.
BACKGROUND Pachyonychia congenita (PC) is a genodermatosis caused by mutations in 1 of 4 known keratin genes, including KRT6A, KRT6B, KRT16, or KRT17. The most common mode of inheritance is autosomal dominant. Families with an affected parent are routinely counseled about the 50% transmission risk to each offspring. In some cases, families with a rare disorder like PC can initially present with...
متن کاملTherapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita.
The field of science and medicine has experienced a flood of data and technology associated with the human genome project. Over 10,000 human diseases have been genetically defined, but little progress has been made with respect to the clinical application of this knowledge. A notable exception to this exists for pachyonychia congenita (PC), a rare, dominant-negative keratin disorder. The establ...
متن کاملPachyonychia Congenita: A Spectrum of KRT6a Mutations in Australian Patients.
BACKGROUND Pachyonychia congenita (PC) is a rare inherited disorder of keratinization characterised by hypertrophic nail dystrophy, painful palmoplantar blisters, cysts, follicular hyperkeratosis and oral leukokeratosis. It is associated with mutations in five differentiation-specific keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17. OBJECTIVES Living with Pachyonychia Congenita can be iso...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2012
ISSN: 0022-202X
DOI: 10.1038/jid.2012.121