共 39 条
- [21] R162W mutation of keratin 9 in a family with autosomal dominant palmoplantar keratoderma with unique histologic featuresJOURNAL OF INVESTIGATIVE DERMATOLOGY SYMPOSIUM PROCEEDINGS, 1999, 4 (02) : 150 - 152Mayuzumi, NShigihara, TIkeda, SOgawa, H
- [22] Palmoplantar keratoderma and deafness: a de novo autosomal dominant mutation in the GJB2 gene encoding connexin 26BRITISH JOURNAL OF DERMATOLOGY, 2011, 165 : 127 - 127Ferguson, J.Natkunarajah, J.Jones, W.Saggar, A. K.Bitner-Glindzicz, M.Viros, A.
- [23] A new PCSK9 gene promoter variant affects gene expression and causes autosomal dominant hypercholesterolemiaJOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2008, 93 (09): : 3577 - 3583Blesa, SebastianVernia, SantiagoGarcia-Garcia, Ana-BarbaraMartinez-Hervas, SergioIvorra, CarmenGonzalez-Albert, VeronicaFrancisco Ascaso, JuanCarlos Martin-Escudero, JuanTomas Real, JoseCarmena, RafaelCasado, MartaJavier Chaves, Felipe
- [24] Autosomal dominant transgradient palmoplantar keratoderma (PPK) and hypotrichosis treated adequately with 13-cis retinoic acid and acitretin: a new phenotype of PPK with congenital alopecia and update on palmoplantar keratoderma-congenital alopecia syndromeJOURNAL OF INVESTIGATIVE DERMATOLOGY, 2015, 135 : S73 - S73Cohn, H.Korman, N.
- [25] Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakinJOURNAL OF INVESTIGATIVE DERMATOLOGY, 2006, 126 (07) : 1651 - 1654Norgett, Elizabeth E.Lucke, Tom W.Bowers, BillMunro, Colin S.Leigh, Irene M.Kelsell, David P.
- [26] Mutations in AQP5, Encoding a Water-Channel Protein, Cause Autosomal-Dominant Diffuse Nonepidermolytic Palmoplantar KeratodermaAMERICAN JOURNAL OF HUMAN GENETICS, 2013, 93 (02) : 330 - 335Blaydon, Diana C.Lind, Lisbet K.Plagnol, VincentLinton, Kenneth J.Smith, Francis J. D.Wilson, Neil J.McLean, W. H. IrwinMunro, Colin S.South, Andrew P.Leigh, Irene M.O'Toole, Edel A.Lundstrom, AnitaKelsell, David P.
- [27] Aquaporin 5 (AQP5), a water channel protein, is mutated in autosomal dominant diffuse non-epidermolytic palmoplantar keratodermaJOURNAL OF INVESTIGATIVE DERMATOLOGY, 2013, 133 : S139 - S139Blaydon, D. C.Lind, L.Plagnol, V.Linton, K. J.South, A. P.Leigh, I. M.O'Toole, E. A.Lundstrom, A.Kelsell, D. P.
- [28] Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian familyJournal of Human Genetics, 2020, 65 : 397 - 410Cherine CharfeddineHamza DallaliGhaith AbdessalemKais GhediraYosr HamdiSahar ElouejZied LandoulsiValérie DelagueArnaud LagardeNicolas LevyAziz El-AmraouiMohamed Samir BoubakerSonia AbdelhakMourad Mokni
- [29] Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian familyJOURNAL OF HUMAN GENETICS, 2020, 65 (04) : 397 - 410Charfeddine, CherineDallali, HamzaAbdessalem, GhaithGhedira, KaisHamdi, YosrElouej, SaharLandoulsi, ZiedDelague, ValerieLagarde, ArnaudLevy, NicolasEl-Amraoui, AzizBoubaker, Mohamed SamirAbdelhak, SoniaMokni, Mourad
- [30] Velvet, a dominant Egfr mutation that causes wavy hair and defective eyelid development in miceGENETICS, 2004, 166 (01) : 331 - 340Du, XTabeta, KHoebe, KLiu, HQMann, NMudd, SCrozat, KSovath, SGong, XHBeutler, B