نتایج جستجو برای: pachyonychia congenital

تعداد نتایج: 120621  

Journal: :Medical Journal of Dr. D.Y. Patil Vidyapeeth 2021

2014
NJ Wilson EA O'Toole LM Milstone CD Hansen AA Shepherd E Al-Asadi ME Schwartz WHI McLean E Sprecher FJD Smith

BACKGROUND Pachyonychia congenita (PC) is a rare autosomal dominant keratinizing disorder characterized by severe, painful, palmoplantar keratoderma and nail dystrophy, often accompanied by oral leucokeratosis, cysts and follicular keratosis. It is caused by mutations in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16 or KRT17. OBJECTIVES To identify mutations in 84 new families with a ...

2017
Manoj Agarwala Pankaj Salphale Dincy Peter Neil J Wilson Susanne Pulimood Mary E Schwartz Frances J D Smith

Pachyonychia congenita (PC) is a rare autosomal dominant genetic skin disorder due to a mutation in any one of the five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17. The main features are palmoplantar keratoderma, plantar pain, and nail dystrophy. Cysts of various types, follicular hyperkeratosis, oral leukokeratosis, hyperhidrosis, and natal teeth may also be present. Four unrelated Ind...

Journal: :Indian Dermatology Online Journal 2016

Journal: :Journal of Investigative Dermatology Symposium Proceedings 2005

Journal: :The Journal of dermatology 2013
Hong Guo Dan Liu Jun Wu Qiong Liao Yun Bai

Sec. 107. Limitations on exclusive rights: Fair use Notwithstanding the provisions of sections 106 and 106A, the fair use of a copyrighted work, including such use by reproduction in copies or phonorecords or by any other means specified by that section, for purposes such as criticism, comment, news reporting, teaching (including multiple copies for classroom use), scholarship, or research, is ...

Journal: :Journal of Investigative Dermatology 2011

Journal: :Journal of Investigative Dermatology 2008

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