A novel base pair deletion in the TRPS1 gene in a Japanese patient with trichorhinophalangeal syndrome

被引：1

作者：

Saito, Ryuichi ^{[1
]}

Yamaguchi, Takashi ^{[1
]}

Ohmori, Shun ^{[1
]}

Haruyama, Sanehito ^{[1
]}

Sawada, Yu ^{[1
]}

Yoshioka, Manabu ^{[1
]}

Okada, Etsuko ^{[1
]}

Nakamura, Motonobu ^{[1
]}

机构：

[1] Univ Occupat & Environm Hlth, Dept Dermatol, Kitakyushu, Fukuoka, Japan

来源：

EUROPEAN JOURNAL OF DERMATOLOGY | 2018年 / 28卷 / 01期

关键词：

SYNDROME TYPE-I;

D O I：

10.1684/ejd.2018.3253

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

引用

页码：107 / 108

页数：3

共 6 条

[1] MOLECULAR DISSECTION OF A CONTIGUOUS GENE SYNDROME - LOCALIZATION OF THE GENES INVOLVED IN THE LANGER-GIEDION SYNDROME [J].

LUDECKE, HJ ;

WAGNER, MJ ;

NARDMANN, J ;

LAPILLO, B ;

PARRISH, JE ;

WILLEMS, PJ ;

HAAN, EA ;

FRYDMAN, M ;

HAMERS, GJH ;

WELLS, DE ;

HORSTHEMKE, B .

HUMAN MOLECULAR GENETICS, 1995, 4 (01) :31-36

[2] Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome [J].

Maas, Saskia M. ;

Shaw, Adam C. ;

Bikker, Hennie ;

Luedecke, Hermann-Josef ;

van der Tuin, Karin ;

Badura-Stronka, Magdalena ;

Belligni, Elga ;

Biamino, Elisa ;

Bonati, Maria Teresa ;

Carvalho, Daniel R. ;

Cobben, JanMaarten ;

de Man, Stella A. ;

Den Hollander, Nicolette S. ;

Di Donato, Nataliya ;

Garavelli, Livia ;

Gronborg, Sabine ;

Herkert, Johanna C. ;

Hoogeboom, A. Jeannette M. ;

Jamsheer, Aleksander ;

Latos-Bielenska, Anna ;

Maat-Kievit, Anneke ;

Magnani, Cinzia ;

Marcelis, Carlo ;

Mathijssen, Inge B. ;

Nielsen, Maartje ;

Otten, Ellen ;

Ousager, Lilian B. ;

Pilch, Jacek ;

Plomp, Astrid ;

Poke, Gemma ;

Poluha, Anna ;

Posmyk, Renata ;

Rieubland, Claudine ;

Silengo, Margharita ;

Simon, Marleen ;

Steichen, Elisabeth ;

Stumpel, Connie ;

Szakszon, Katalin ;

Polonkai, Edit ;

van den Ende, Jenneke ;

van der Steen, Antony ;

van Essen, Ton ;

van Haeringen, Arie ;

van Hagen, Johanna M. ;

Verheij, Joke B. G. M. ;

Mannens, Marcel M. ;

Hennekam, Raoul C. .

EUROPEAN JOURNAL OF MEDICAL GENETICS, 2015, 58 (05) :279-292

[3] Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I [J].

Momeni, P ;

Glöckner, G ;

Schmidt, O ;

von Holtum, D ;

Albrecht, B ;

Gillessen-Kaesbach, G ;

Hennekam, R ;

Meinecke, P ;

Zabel, B ;

Rosenthal, A ;

Horsthemke, B ;

Lüdecke, HJ .

NATURE GENETICS, 2000, 24 (01) :71-74

[4] A novel missense mutation in the TRPS1 gene in a case of trichorhinophalangeal syndrome type I (TRPS1) with fish-like malodour [J].

Nakamura, M. ;

Sugita, K. ;

Tokura, Y. .

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2010, 24 (03) :358-359

[5] Severe muscle weakness to necessitate rehabilitation in a case of trichorhinophalangeal syndrome type II [J].

Nakamura, M. ;

Tokura, Y. ;

Futami, T. ;

Miyachi, Y. ;

Utani, A. .

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2009, 23 (06) :710-712

[6] Trpsl regulates proliferation and apoptosis of chondrocytes through Stat3 signaling [J].

Suemoto, Hiroki ;

Muragaki, Yasuteru ;

Nishioka, Katsuhiro ;

Sato, Misako ;

Ooshima, Akira ;

Itoh, Shunji ;

Hatamura, Ikuji ;

Ozaki, Michitaka ;

Braun, Attila ;

Gustafsson, Erika ;

Faessler, Reinhard .

DEVELOPMENTAL BIOLOGY, 2007, 312 (02) :572-581

← 1 →