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
[1]   Mutations in the gene encoding 3β-hydroxysteroid-Δ8,Δ7-isomerase cause X-linked dominant Conradi-Hunermann syndrome [J].
Braverman, N ;
Lin, P ;
Moebius, FF ;
Obie, C ;
Moser, A ;
Glossmann, H ;
Wilcox, WR ;
Rimoin, DL ;
Smith, M ;
Kratz, L ;
Kelley, RI ;
Valle, D .
NATURE GENETICS, 1999, 22 (03) :291-294
[2]   A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis [J].
Cooper, MK ;
Wassif, CA ;
Krakowiak, PA ;
Taipale, J ;
Gong, RY ;
Kelley, RI ;
Porter, FD ;
Beachy, PA .
NATURE GENETICS, 2003, 33 (04) :508-513
[3]   Mutations in a Δ8-Δ7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata [J].
Derry, JMJ ;
Gormally, E ;
Means, GD ;
Zhao, W ;
Meindl, A ;
Kelley, RI ;
Boyd, Y ;
Herman, GE .
NATURE GENETICS, 1999, 22 (03) :286-290
[4]   CUTANEOUS HISTOPATHOLOGY OF CONRADI-HUNERMANN SYNDROME [J].
HAMAGUCHI, T ;
BONDAR, G ;
SIEGFRIED, E ;
PENNEYS, NS .
JOURNAL OF CUTANEOUS PATHOLOGY, 1995, 22 (01) :38-41
[5]   X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA - REVIEW OF LITERATURE AND REPORT OF A CASE [J].
HAPPLE, R .
HUMAN GENETICS, 1979, 53 (01) :65-73
[6]   The Conradi-Hunermann-Happle syndrome (CDPX2) and emopamil binding protein:: novel mutations, and somatic and gonadal mosaicism [J].
Has, C ;
Bruckner-Tuderman, L ;
Müller, D ;
Floeth, M ;
Folkers, E ;
Donnai, D ;
Traupe, H .
HUMAN MOLECULAR GENETICS, 2000, 9 (13) :1951-1955
[7]   Gas chromatography-mass spectrometry and molecular genetic studies in families with the Conradi-Hunermann-Happle syndrome [J].
Has, C ;
Seedorf, U ;
Kannenberg, F ;
Bruckner-Tuderman, L ;
Folkers, E ;
Fölster-Holst, R ;
Baric, I ;
Traupe, H .
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2002, 118 (05) :851-858
[8]   Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome) [J].
Herman, GE ;
Kelley, RI ;
Pureza, V ;
Smith, D ;
Kopacz, K ;
Pitt, J ;
Sutphen, R ;
Sheffield, LJ ;
Metzenberg, AB .
GENETICS IN MEDICINE, 2002, 4 (06) :434-438
[9]   Molecular basis of Refsum disease:: Sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7) [J].
Jansen, GA ;
Waterham, HR ;
Wanders, RJA .
HUMAN MUTATION, 2004, 23 (03) :209-218
[10]   Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome [J].
Kalff-Suske, M ;
Wild, A ;
Topp, J ;
Wessling, M ;
Jacobsen, EM ;
Bornholdt, D ;
Engel, H ;
Heuer, H ;
Aalfs, CM ;
Ausems, MGEM ;
Barone, R ;
Herzog, A ;
Heutink, P ;
Homfray, T ;
Gillessen-Kaesbach, G ;
König, R ;
Kunze, J ;
Meinecke, P ;
Müller, D ;
Rizzo, R ;
Strenge, S ;
Superti-Furga, A ;
Grzeschik, KH .
HUMAN MOLECULAR GENETICS, 1999, 8 (09) :1769-1777