PEELING SKIN SYNDROME ASSOCIATED WITH NOVEL VARIANT IN FLG2 GENE

被引：0
|
作者：
Alfares, Ahmed
Al-Khenaizan, Sultan
Al Mutairi, Fuad
机构：
来源：
MOLECULAR GENETICS AND METABOLISM | 2018年 / 123卷 / 03期
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
10
引用
收藏
页码：214 / 214
页数：1
相关论文
共 50 条
  • [21] Novel variant related to SATB2-associated syndrome
    Benyahya, Nada
    Amllal, Nada
    Elalaoui, Siham Chafai
    El Alloussi, Mustapha
    Sefiani, Abdelaziz
    Lyahyai, Jaber
    INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE, 2024,
  • [22] Novel TGM5 mutations in acral peeling skin syndrome
    van der Velden, Jaap J. A. J.
    van Geel, Michel
    Nellen, Ruud G. L.
    Jonkman, Marcel F.
    McGrath, John A.
    Nanda, Arti
    Sprecher, Eli
    van Steensel, Maurice A. M.
    McLean, W. H. Irwin
    Cassidy, Andrew J.
    EXPERIMENTAL DERMATOLOGY, 2015, 24 (04) : 285 - 289
  • [23] A novel variant in DOCK6 gene associated with Adams-Oliver syndrome type 2
    Alzahem, Tariq
    Alsalamah, Abrar K.
    Mura, Marco
    Alsulaiman, Sulaiman M.
    OPHTHALMIC GENETICS, 2020, 41 (04) : 377 - 380
  • [24] A novel variant in DNAJC13 gene associated with Parkinsonism syndrome.
    Corbille, A. -G.
    Damier, P. G.
    Chelly, J.
    EUROPEAN JOURNAL OF NEUROLOGY, 2020, 27 : 961 - 961
  • [25] A novel pathogenic variant in the CLDN10 gene associated with HELIX syndrome
    Martinez-Romero, M. C.
    Barreda-Sanchez, M.
    Perez-Tomas, M. E.
    Ballesta-Martinez, M. J.
    Lopez-Gonzalez, V.
    Sanchez-Soler, M. J.
    Serrano-Anton, A. T.
    Rodriguez-Pena, L.
    Hernandez, M. E.
    Martinez-Menchon, T.
    Sanchez-Pedreno, P.
    Glover, G.
    Carbonell, P.
    Cabello-Chaves, V.
    Guillen-Navarro, E.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 826 - 827
  • [26] Novel variant in the EZH2 gene causing Weaver syndrome
    Vaiteniene, E. M.
    Cimbalistiene, L.
    Zukauskaite, G.
    Utkus, A.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 842 - 843
  • [27] Acral peeling skin syndrome resembles epidermolysis bullosa simplex: novel and recurrent mutations in the TGM5 gene
    Kiritsi, D.
    Cosgarea, I.
    Franzke, C. W.
    Schumann, H.
    Kohlhase, J.
    Bruckner-Tuderman, L.
    Has, C.
    EXPERIMENTAL DERMATOLOGY, 2010, 19 (02) : 177 - 177
  • [28] Acral peeling skin syndrome resulting from a novel homozygous mutation in the CSTA gene-A report of two cases
    Sarika, Georgina-Maria
    Ibrahim, Ruba
    Zlotogorski, Abraham
    Molho-Pessach, Vered
    PEDIATRIC DERMATOLOGY, 2021, 38 (06) : 1546 - 1548
  • [29] Novel variant in theCNNM2gene associated with dominant hypomagnesemia
    Garcia-Castano, Alejandro
    Madariaga, Leire
    Anton-Gamero, Montserrat
    Mejia, Natalia
    Ponce, Jenny
    Gomez-Conde, Sara
    Perez de Nanclares, Gustavo
    De la Hoz, Ana Belen
    Martinez, Rosa
    Saso, Laura
    Martinez de LaPiscina, Idoia
    Urrutia, Ines
    Velasco, Olaia
    Aguayo, Anibal
    Castano, Luis
    Gaztambide, Sonia
    PLOS ONE, 2020, 15 (09):
  • [30] A Novel Variant in Dopamine Receptor Type 2 Gene is Associated with Schizophrenia
    Hanif, Farina
    Amir, Qurat-ul-Ain
    Washdev, Washdev
    Bilwani, Fareena
    Simjee, Shabana Usman
    Haque, Zeba
    ARCHIVES OF MEDICAL RESEARCH, 2021, 52 (03) : 348 - 353
12345