Novel mutations in RIPK4 underlie ectodermal dysplasia-syndactyly-keratoderma syndrome

被引:0
|
作者
Monetta, R. [1 ,2 ]
Fortugno, P. [2 ]
Angelucci, F. [1 ]
Camerota, L. [3 ]
Didona, B. [2 ]
Castiglia, D. [2 ]
Brancati, F. [2 ,3 ]
机构
[1] Univ Aquila, Dept Life Hlth & Environm Sci, Laquila, Italy
[2] IDI IRCCS, Ist Dermopat Immacolata, Rome, Italy
[3] Univ Aquila, Div Med Genet, Dept Life Hlth & Environm Sci, Laquila, Italy
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
E-P11.51
引用
收藏
页码:1888 / 1888
页数:1
相关论文
共 50 条
  • [31] Ectodermal dysplasia-cutaneous syndactyly syndrome maps to chromosome 7p21.1-p14.3
    Muhammad Tariq
    Muhammad Nasim Khan
    Wasim Ahmad
    Human Genetics, 2009, 125 : 421 - 429
  • [32] Mutations in the grainyhead-like 2 transcription factor result in a novel autosomal recessive ectodermal dysplasia syndrome
    Petrof, G.
    Nanda, A.
    Simpson, M. A.
    Takeichi, T.
    McMillan, J.
    Ozoemena, L.
    Begum, R.
    Al-Ajmi, H.
    Parsons, M.
    McGrath, J. A.
    BRITISH JOURNAL OF DERMATOLOGY, 2014, 170 (04) : E40 - E40
  • [33] Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome
    John A. McGrath
    James R. McMillan
    Carrie S. Shemanko
    Sarah K. Runswick
    Irene M. Leigh
    E. Birgitte Lane
    David R. Garrod
    Robin A.J. Eady
    Nature Genetics, 1997, 17 : 240 - 244
  • [34] Mutations in the plakophilin 1 gene result in ectodermal dysplasia skin fragility syndrome
    McGrath, JA
    McMillan, JR
    Shemanko, CS
    Runswick, SK
    Leight, IM
    Lane, EB
    Garrod, DR
    Eady, RAJ
    NATURE GENETICS, 1997, 17 (02) : 240 - 244
  • [35] Two cases of hypohidrotic ectodermal dysplasia caused by novel mutations in the EDA gene
    Hayashi, R.
    Shimomura, Y.
    Abe, R.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2017, 137 (10) : S230 - S230
  • [36] Ectodermal dysplasia and brain cystic changes: Confirmation of a novel neurocutaneous syndrome
    DiFazio, MP
    Levin, S
    Depper, M
    JOURNAL OF CHILD NEUROLOGY, 2002, 17 (07) : 475 - 478
  • [37] Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes
    Gollasch, Benjamin
    Basmanav, Fitnat Buket
    Nanda, Arti
    Fritz, Guenter
    Mahmoudi, Hassnaa
    Thiele, Holger
    Wehner, Maria
    Wolf, Sabrina
    Altmueller, Janine
    Nuernberg, Peter
    Frank, Jorge
    Betz, Regina C.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (11) : 2555 - 2562
  • [38] Ectodermal dysplasia and brain cystic changes: Confirmation of a novel neurocutaneous syndrome
    DiFazio, MP
    Depper, M
    ANNALS OF NEUROLOGY, 2000, 48 (03) : 531 - 531
  • [39] Mutations in GRHL2 Result in an Autosomal-Recessive Ectodermal Dysplasia Syndrome
    Petrof, Gabriela
    Nanda, Arti
    Howden, Jake
    Takeichi, Takuya
    McMillan, James R.
    Aristodemou, Sophia
    Ozoemena, Linda
    Liu, Lu
    South, Andrew P.
    Pourreyron, Celine
    Dafou, Dimitra
    Proudfoot, Laura E.
    Al-Ajmi, Hejab
    Akiyama, Masashi
    McLean, W. H. Irwin
    Simpson, Michael A.
    Parsons, Maddy
    McGrath, John A.
    AMERICAN JOURNAL OF HUMAN GENETICS, 2014, 95 (03) : 308 - 314
  • [40] AUTOSOMAL RECESSIVE ECTODERMAL DYSPLASIA, CLEFT-LIP PALATE, MENTAL-RETARDATION, AND SYNDACTYLY - THE ZLOTOGORA-OGUR SYNDROME
    RODINI, ESO
    RICHIERICOSTA, A
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 36 (04): : 473 - 476