Evaluating the genotypes and neuropsychiatric phenotypes in Darier disease

被引：1
作者：
Kamijo, M. [1 ]
机构：
[1] Juntendo Univ, Grad Sch Med, Dept Dermatol & Allergol, Tokyo, Japan
来源：
BRITISH JOURNAL OF DERMATOLOGY | 2016年 / 174卷 / 03期
关键词：
ATP2A2; MUTATIONS;
D O I：
10.1111/bjd.14365
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
引用
收藏
页码：488 / 489
页数：2
相关论文
共 50 条
  • [21] SPTAN1 encephalopathy: distinct phenotypes and genotypes
    Tohyama, Jun
    Nakashima, Mitsuko
    Nabatame, Shin
    Gaik-Siew, Ch'ng
    Miyata, Rie
    Rener-Primec, Zvonka
    Kato, Mitsuhiro
    Matsumoto, Naomichi
    Saitsu, Hirotomo
    JOURNAL OF HUMAN GENETICS, 2015, 60 (04) : 167 - 173
  • [22] Dowling-Degos disease co-presenting with Darier disease
    Strausburg, M.
    Linos, K.
    Staser, K.
    Mousdicas, N.
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2016, 41 (04) : 410 - 412
  • [23] Analysis between phenotypes and genotypes of inner ear malformation
    Wang, Suyang
    Ding, Wenjuan
    Chen, Chi
    Xu, Baicheng
    Liu, Xiaowen
    Bian, Panpan
    Guo, Yufen
    ACTA OTO-LARYNGOLOGICA, 2019, 139 (03) : 223 - 232
  • [24] Segmental Darier's disease of unusually late onset
    Antonov, Dimitar
    Wiegand, Cornelia
    Schliemann, Sibylle
    Elsner, Peter
    JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT, 2018, 16 (11): : 1365 - 1367
  • [25] Histological characterization of Darier's disease in Tunisian families
    Kassar, S.
    Tounsi-Kettiti, H.
    Charfeddine, C.
    Zribi, H.
    Bchetnia, M.
    Jerbi, E.
    Mokni, M.
    Ben Osman, A.
    Abdelhak, S.
    Boubaker, S.
    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2009, 23 (10) : 1178 - 1183
  • [26] Leber Congenital Amaurosis: Genotypes and Retinal Structure Phenotypes
    Jacobson, Samuel G.
    Cideciyan, Artur V.
    Huang, Wei Chieh
    Sumaroka, Alexander
    Nam, Hyun Ju
    Sheplock, Rebecca
    Schwartz, Sharon B.
    RETINAL DEGENERATIVE DISEASES: MECHANISMS AND EXPERIMENTAL THERAPY, 2016, 854 : 169 - 175
  • [27] Guttate leukoderma in Darier disease: case report and review
    Terrom, M.
    Dhaille, F.
    Baltazard, T.
    Dadban, A.
    Sevestre, H.
    Lok, C.
    Chaby, G.
    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2016, 30 (12) : E205 - E209
  • [28] Darier and Hailey-Hailey disease: update 2021
    Rogner, Danielle Franziska
    Lammer, Judith
    Zink, Alexander
    Hamm, Henning
    JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT, 2021, 19 (10): : 1478 - 1500
  • [29] Phenotypes and genotypes in individuals with SMC1A variants
    Huisman, Sylvia
    Mulder, Paul A.
    Redeker, Egbert
    Bader, Ingrid
    Bisgaard, Anne-Marie
    Brooks, Alice
    Cereda, Anna
    Cinca, Constanza
    Clark, Dinah
    Cormier-Daire, Valerie
    Deardorff, Matthew A.
    Diderich, Karin
    Elting, Mariet
    van Essen, Anthonie
    FitzPatrick, David
    Gervasini, Cristina
    Gillessen-Kaesbach, Gabriele
    Girisha, Katta M.
    Hilhorst-Hofstee, Yvonne
    Hopman, Saskia
    Horn, Denise
    Isrie, Mala
    Jansen, Sandra
    Jespersgaard, Cathrine
    Kaiser, Frank J.
    Kaur, Maninder
    Kleefstra, Tjitske
    Krantz, Ian D.
    Lakeman, Phillis
    Landlust, Annemiek
    Lessel, Davor
    Michot, Caroline
    Moss, Jo
    Noon, Sarah E.
    Oliver, Chris
    Parenti, Ilaria
    Pie, Juan
    Ramos, Feliciano J.
    Rieubland, Claudine
    Russo, Silvia
    Selicorni, Angelo
    Tumer, Zeynep
    Vorstenbosch, Rieneke
    Wenger, Tara L.
    van Balkom, Ingrid
    Piening, Sigrid
    Wierzba, Jolanta
    Hennekam, Raoul C.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (08) : 2108 - 2125
  • [30] The coexistence of Darier's disease and Halley-Halley disease symptoms
    Tomaszewska, Katarzyna A.
    Gerlicz-Kowalczuk, Zofia
    Kregiel, Magdalena
    Noweta, Marcin
    Pluzanka-Srebrzynska, Katarzyna
    Zuchowska, Anna
    Kaszuba, Andrzej
    POSTEPY DERMATOLOGII I ALERGOLOGII, 2017, 34 (02): : 180 - 183
12345