MARIE-UNNA HYPOTRICHOSIS - CLINICAL AND LABORATORY STUDIES

被引:0
|
作者
HORE, RL
JONES, LN
机构
[1] ROYAL CHILDRENS HOSP,BIRTH DEFECTS RES INST,PARKVILLE,VIC 3052,AUSTRALIA
[2] CSIRO,DIV PROT CHEM,PARKVILLE,VIC 3052,AUSTRALIA
来源
AUSTRALIAN PAEDIATRIC JOURNAL | 1985年 / 21卷 / 03期
关键词
D O I
暂无
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:220 / 220
页数:1
相关论文
共 50 条
  • [41] A novel mutation in the human hairless transcript gene in a family with Marie Unna hereditary hypotrichosis Genetics and Genodermatoses
    Ramot, Y.
    Horev, L.
    Smolovich, I.
    Molho-Pessach, V.
    Zlotogorski, A.
    EXPERIMENTAL DERMATOLOGY, 2010, 19 (06) : 564 - 565
  • [42] Marie Unna hereditary hypotrichosis is caused by mutations of an upstream open reading frame in the human hairless gene
    Zhang, X.
    Wen, Y.
    Liu, Y.
    Xue, Y.
    Zhao, Y.
    Hua, R.
    Wang, K.
    Sun, M.
    McLean, W.
    He, C.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2009, 129 : S86 - S86
  • [43] Progressive patterned scalp hypotrichosis, with wiry hair, onycholysis, and intermittently associated cleft lip and palate: Clinical and genetic distinction from Marie Unna
    Green, J
    Fitzpatrick, E
    de Berker, D
    Forrest, SM
    Sinclair, RD
    JOURNAL OF INVESTIGATIVE DERMATOLOGY SYMPOSIUM PROCEEDINGS, 2003, 8 (01) : 121 - 125
  • [44] A refined locus for marie unna hereditary hypotrichosis1.1-cM: interval at 8p21.3
    Liang, Y
    He, P
    Zhang, X
    Yang, Q
    Li, M
    Yang, S
    Yan, K
    Cui, Y
    Shen, Y
    Wang, H
    Sun, L
    Du, W
    Shen, Y
    Xu, S
    Huang, W
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2004, 122 (03) : A82 - A82
  • [45] Identification of a novel sporadic U2HR pathogenic variant in a patient with Marie Unna hereditary hypotrichosis
    Braun, Tatjana
    Wehner, Maria
    Teichler, Anne
    Betz, Regina C.
    Hoeger, Peter H.
    PEDIATRIC DERMATOLOGY, 2023, 40 (03) : 466 - 467
  • [46] Refinement of a locus for Marie Unna hereditary hypotrichosis to a 1.1-cM interval at 8p21.3
    He, PP
    Zhang, XJ
    Yang, Q
    Li, M
    Liang, YH
    Yang, S
    Yan, KL
    Cui, Y
    Shen, YY
    Wang, HY
    Sun, LD
    Du, WH
    Shen, YJ
    Xu, SJ
    Huang, W
    BRITISH JOURNAL OF DERMATOLOGY, 2004, 150 (05) : 837 - 842
  • [47] Marie unna hereditary hypotrichosis gene maps to human chromosome 8p21 near Hairless
    Sreekumar, GP
    Roberts, JL
    Wong, CQ
    Stenn, KS
    Parimoo, S
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2000, 114 (03) : 595 - 597
  • [48] Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis
    Zhang, Xin
    Guo, Bi-Rong
    Cai, Li-Qiong
    Jiang, Tao
    Sun, Liang-Dan
    Cui, Yong
    Hu, Jing-Chu
    Zhu, Jun
    Chen, Gang
    Tang, Xian-Fa
    Sun, Guang-Qing
    Tang, Hua-Yang
    Liu, Yuan
    Li, Min
    Li, Qi-Bin
    Cheng, Hui
    Gao, Min
    Li, Ping
    Yang, Xu
    Zuo, Xian-Bo
    Zheng, Xiao-Dong
    Wang, Pei-Guang
    Wang, Jian
    Wang, Jun
    Liu, Jian-Jun
    Yang, Sen
    Li, Ying-Rui
    Zhang, Xue-Jun
    JOURNAL OF MEDICAL GENETICS, 2012, 49 (12) : 727 - 730
  • [49] A newly identified missense mutation of the HR gene is possibly associated with a novel phenotype of Marie Unna Hereditary Hypotrichosis 1
    Farkas, Katalin
    Nagy, Nikoletta
    Beke, Dora
    Kinyo, Agnes
    Kemeny, Lajos
    Szell, Marta
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2011, 131 : S67 - S67
  • [50] Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
    Wen, Yaran
    Liu, Yang
    Xu, Yiming
    Zhao, Yiwei
    Hua, Rui
    Wang, Kaibo
    Sun, Miao
    Li, Yuanhong
    Yang, Sen
    Zhang, Xue-Jun
    Kruse, Roland
    Cichon, Sven
    Betz, Regina C.
    Noethen, Markus M.
    van Steensel, Maurice A. M.
    van Geel, Michel
    Steijlen, Peter M.
    Hohl, Daniel
    Huber, Marcel
    Dunnill, Giles S.
    Kennedy, Cameron
    Messenger, Andrew
    Munro, Colin S.
    Terrinoni, Alessandro
    Hovnanian, Alain
    Bodemer, Christine
    de Prost, Yves
    Paller, Amy S.
    Irvine, Alan D.
    Sinclair, Rod
    Green, Jack
    Shang, Dandan
    Liu, Qing
    Luo, Yang
    Jiang, Li
    Chen, Hong-Duo
    Lo, Wilson H-Y
    McLean, W. H. Irwin
    He, Chun-Di
    Zhang, Xue
    NATURE GENETICS, 2009, 41 (02) : 228 - 233