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15 results
  1. Pachyonychia Congenita - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1280
    ... posted live 14 July 2005 (rlk) Original submission References Literature Cited Covello SP, Smith FJD, Sillevis Smitt JH, Paller AS, Munro CS, Jonkman MF, Uitto J, McLean WHI. Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. Br J Dermatol. 1998; 139 :475– ...
  2. Epidermolysis Bullosa Simplex - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1369
    ... Epidermolytic ichthyosis AD Annular epidermolytic ichthyosis KRT16 AD Pachyonychia congenita-K16 KRT17 AD Pachyonychia congenita-K17 KRT2 AD Superficial epidermolytic ichthyosis KRT6A AD ...
  3. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... 712 Neurocutaneous Syndromes C16.131.077.350.856 Pachyonychia Congenita C16.131.077.371 Fraser Syndrome C16.131. ... 712 Neurocutaneous Syndromes C16.131.831.350.856 Pachyonychia Congenita C16.131.831.350.856.500 Steatocystoma Multiplex ...
  4. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/pachyonychia-congenita</url><title >Pachyonychia congenita</title><other_names ><other_ ...
  5. Hidrotic Ectodermal Dysplasia 2 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1200
    ... with a clinical picture similar to that of pachyonychia congenita [ van Steensel et al 2003 ] (see Differential Diagnosis ). ... Absent palmoplantar keratoderma KRT6A KRT6B KRT6C KRT16 KRT17 Pachyonychia congenita (PC) AD Hypertrophic nail dystrophy w/subungual hyperkeratosis ...
  6. Skin Conditions | Hives | Acne | MedlinePlus 
    https://medlineplus.gov/skinconditions.html
    ... Spanish Lichen Striatus (American Osteopathic College of Dermatology) Pachyonychia Congenita (National Institute of Arthritis and Musculoskeletal and Skin ...
  7. Resources for Genetics Professionals — Genes with Highly Homologous Gene Family Members or a Pseudogene(s) - ... 
    https://www.ncbi.nlm.nih.gov/books/NBK535152
    ... Releasing Hormone Deficiency .) 5%-10% KRT16 ≥5 pseudogenes Pachyonychia congenita 29% Palmoplantar keratoderma, nonepidermolytic (focal) (OMIM 613000 ) ≥5 families KRT6A ≥4 pseudogenes Pachyonychia congenita 42% KRT86 KRT87P KRT88P Monilethrix (OMIM 158000 ) ≥4 ...
  8. MEDLINE Data Changes - 2007. NLM Technical Bulletin. 2006 Nov–Dec 
    https://www.nlm.nih.gov/.../nd06/nd06_medline_data_changes2007.html
    ... 5/deficiency Epidermolysis Bullosa Simplex Keratin-6/deficiency Pachyonychia Congenita Keratin-9/deficiency Keratoderma, Palmoplantar, Epidermolytic Keratin-10/ ...
  9. NLM Digital Collections - Integrated authority file : IAF 
    Publication: [Bethesda, Md.] : U.S. Dept. of Health, Education, and Welfare, Public Health Service, National Institutes of Health, 1974
    resource.nlm.nih.gov/8909143
    ... LAXA (VET) (NEU) (NEU) (IAF) (VIR) (IAF) (IAF) pachyonychia congenita X ECTODERMAL DEFECT, CONGENITAL X NAILS, MALFORMED pachyperiosteoderma ...
  10. Poikiloderma with Neutropenia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK459118
    ... 2021 ]. Nails. Thickened, hyperkeratotic toenails and/or fingernails (pachyonychia) are common; dystrophic nails, which can slough, may ... posted live 19 December 2016 (lw) Original submission References Literature Cited Akdogan N, Kindis E, Bostan E, ...
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