Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia

被引：7
|
作者：
Callea, M. [1 ]
Willoughby, C. E. [2 ]
Nieminen, P. [3 ]
Di Stazio, M. [4 ]
Bellacchio, E. [5 ]
Giglio, S. [6 ,7 ]
Sani, I. [7 ]
Vinciguerra, A. [1 ]
Maglione, M. [4 ]
Tadini, G. [8 ,9 ]
Clarich, G. [1 ]
机构：
[1] IRCCS Burlo Garofolo, Inst Maternal & Child Hlth, Trieste, Italy
[2] Univ Liverpool, Inst Ageing & Chron Dis, Dept Eye & Vis Sci, Liverpool L69 3BX, Merseyside, England
[3] Univ Helsinki, Cent Hosp, Inst Dent, Dept Oral & Maxillofacial Dis, Helsinki, Finland
[4] Univ Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy
[5] Bambino Gesu Pediat Hosp, IRCCS, Res Lab, Rome, Italy
[6] Univ Florence, Med Genet Sect, Dept Clin Pathophysiol, Florence, Italy
[7] Meyer Childrens Univ Hosp, Med Genet Unit, Florence, Italy
[8] Osped Maggiore, Policlin Milano, Fdn IRCCS Ca Granda, Milan, Italy
[9] Univ Milan, Dept Pediat Dermatol, Milan, Italy
来源：
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY | 2015年 / 29卷 / 05期
关键词：
INTRALYMPHATIC HISTIOCYTOSIS; METAL IMPLANTS;
D O I：
10.1111/jdv.12457
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
[No abstract available]
引用
收藏
页码：1032 / 1034
页数：3
相关论文
共 50 条
  • [1] Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Caused by a Novel Mutation in EDAR Gene
    Ebadi, Nader
    Javadi, Sepehr
    Salmani, TayyebAli
    Miryounesi, Mohammad
    Yassaee, Vahid Reza
    Ghafouri-Fard, Soudeh
    INTERNATIONAL JOURNAL OF PEDIATRICS-MASHHAD, 2018, 6 (01): : 6899 - 6902
  • [2] Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia
    Naqvi, S. K.
    Wasif, N.
    Javaid, H.
    Ahmad, W.
    ORTHODONTICS & CRANIOFACIAL RESEARCH, 2011, 14 (03) : 156 - 159
  • [3] EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families
    Lind, Lisbet K.
    Stecksen-Blicks, Christina
    Lejon, Kristina
    Schmitt-Egenolf, Marcus
    BMC MEDICAL GENETICS, 2006, 7
  • [4] A Novel Mutation in the EDAR Gene Causes Severe Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
    Henningsen, Emil
    Svendsen, Mathias Tiedemann
    Lildballe, Dorte Launholt
    Jensen, Peter Kjestrup Axel
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (08) : 2059 - 2061
  • [5] A novel deletion mutation in the EDAR gene in a Pakistani family with autosomal recessive hypohidrotic ectodermal dysplasia
    Tariq, M.
    Wasif, N.
    Ahmad, W.
    BRITISH JOURNAL OF DERMATOLOGY, 2007, 157 (01) : 207 - 209
  • [6] A novel frameshift variant of EDAR gene in a patient diagnosed with hypohidrotic ectodermal dysplasia
    Coskun, Mert
    Toylu, Asli
    Peker, Alp
    Clark, Ozden Altiok
    Nur, Banu
    Mihci, Ercan
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 132 - 133
  • [7] Functional studies for a dominant mutation in the EDAR gene responsible for hypohidrotic ectodermal dysplasia
    Okita, Tomoko
    Asano, Nobuyuki
    Yasuno, Shuichiro
    Shimomura, Yutaka
    JOURNAL OF DERMATOLOGY, 2019, 46 (08): : 710 - 715
  • [8] Sequence variants in the EDAR gene causing hypohidrotic ectodermal dysplasia
    Ahmad, Farooq
    Ahmad, Tanveer
    Umair, Muhammad
    Abdullah
    Ahmad, Wasim
    CONGENITAL ANOMALIES, 2019, 59 (04) : 145 - 147
  • [9] Autosomal-dominant hypohidrotic ectodermal dysplasia caused by a novel mutation
    Valcuende-Cavero, F.
    Martinez, F.
    Perez-Pastor, G.
    Oltra, S.
    Ferrer, I.
    Tomas-Cabedo, G.
    Moreno-Presmanes, M.
    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2008, 22 (12) : 1508 - 1510
  • [10] A Novel Splice Site Mutation in the EDAR Gene Underlies Autosomal Recessive Hypohidrotic Ectodermal Dysplasia in a Pakistani Family
    Wasif, Naveed
    Tariq, Muhammad
    Ali, Ghazanfar
    Hassan, Muhammad Jawad
    Ahmad, Wasim
    PEDIATRIC DERMATOLOGY, 2010, 27 (01) : 106 - 108
12345