Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichthyosis)

被引:10
作者
Feldmeyer, L [1 ]
Mevorah, B
Grzeschik, KH
Huber, M
Hohl, D
机构
[1] ETH Honggerberg, Inst Cell Biol, CH-8093 Zurich, Switzerland
[2] Dept Dermatol, Dermatogenet Unit, Lausanne, Switzerland
[3] Dept Dermatol, Lab Cutaneous Biol, Lausanne, Switzerland
[4] Tel Aviv Sourasky Med Ctr, Dept Dermatol, Tel Aviv, Israel
[5] Univ Marburg, Dept Human Genet, Marburg, Germany
关键词
Conradi-Hunermann-Happle syndrome; EBP mutation; X-linked dominant chondrodysplasia punctata; X-linked dominant ichthyosis;
D O I
10.1111/j.1365-2133.2006.07137.x
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:766 / 769
页数:4
相关论文
共 20 条
[11]  
Kelley RI, 1999, AM J MED GENET, V83, P213, DOI 10.1002/(SICI)1096-8628(19990319)83:3<213::AID-AJMG15>3.0.CO
[12]  
2-C
[13]   DIAGNOSIS OF SMITH-LEMLI-OPITZ SYNDROME BY GAS-CHROMATOGRAPHY MASS-SPECTROMETRY OF 7-DEHYDROCHOLESTEROL IN PLASMA, AMNIOTIC-FLUID AND CULTURED SKIN FIBROBLASTS [J].
KELLEY, RI .
CLINICA CHIMICA ACTA, 1995, 236 (01) :45-58
[14]  
KOLDE G, 1984, ACTA DERM-VENEREOL, V64, P389
[15]   Genodermatoses in women [J].
Mevorah, B ;
Politi, Y .
CLINICS IN DERMATOLOGY, 1997, 15 (01) :17-29
[16]  
MOEBIUS FF, 1994, J BIOL CHEM, V269, P29314
[17]   ANALYSIS OF ANY POINT MUTATION IN DNA - THE AMPLIFICATION REFRACTORY MUTATION SYSTEM (ARMS) [J].
NEWTON, CR ;
GRAHAM, A ;
HEPTINSTALL, LE ;
POWELL, SJ ;
SUMMERS, C ;
KALSHEKER, N ;
SMITH, JC ;
MARKHAM, AF .
NUCLEIC ACIDS RESEARCH, 1989, 17 (07) :2503-2516
[18]  
Traupe H, 1999, AM J MED GENET, V85, P324, DOI 10.1002/(SICI)1096-8628(19990806)85:4<324::AID-AJMG2>3.0.CO
[19]  
2-O
[20]   Identification of PEX7 as the second gene involved in Refsum disease [J].
van den Brink, DM ;
Brites, P ;
Haasjes, J ;
Wierzbicki, AS ;
Mitchell, J ;
Lambert-Hamill, M ;
de Belleroche, J ;
Jansen, GA ;
Waterham, HR ;
Wanders, RJA .
AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (02) :471-477