نتایج جستجو برای: pachyonychia congenita

تعداد نتایج: 3662  

Journal: :The European respiratory journal 1992
F Verra S Kouzan P Saiag J Bignon H de Cremoux

Dyskeratosis congenita (DC) is an unusual familial disorder primarily affecting the skin and its appendages. We report the case of a DC patient with chronic respiratory tract involvement, confirming the features previously reported by a small number of authors: 1) chronic bronchoalveolar involvement is not unusual in this disorder; 2) the main features are early sputum production with subsequen...

Journal: :Journal of Investigative Dermatology 2022

Pachyonychia congenita (PC) is a rare keratinizing disorder characterized by thickened nails, painful and inflammatory palmoplantar keratoderma (PPK) blistering for which no standard treatment currently available. PC caused dominant mutations in keratin (KRT) 6A, 6B, 6C, 16 17 genes are involved wound healing epidermal barrier formation. Previous reports pointed to mTOR activation oxidative str...

Journal: :Twin research and human genetics : the official journal of the International Society for Twin Studies 2015
Julie Aitken Schermer Konstantinos V Petrides Philip A Vernon

The phenotypic (observed), genetic, and environmental correlations were examined in a sample of adult twins between the four factors and global score of the trait emotional intelligence questionnaire (TEIQue) and the seven vocational interest factors of the Jackson Career Explorer (JCE). Multiple significant correlations were found involving the work style vocational interest factor (consisting...

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