Tricho-rhino-phalangeal syndrome type I in a Japanese boy

被引:1
作者
Kamoda, T [1 ]
Matsui, A [1 ]
机构
[1] Univ Tsukuba, Dept Paediat, Tsukuba, Ibaraki 3058575, Japan
关键词
Short Stature; Achondroplasia; Bone Deformity; Single Base Deletion; Epiphyseal Fusion;
D O I
10.1007/s00431-003-1305-9
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
[No abstract available]
引用
收藏
页码:810 / 811
页数:2
相关论文
共 8 条
[1]   TRICHORHINOPHALANGEAL SYNDROME - STUDY OF 16 PATIENTS IN ONE FAMILY [J].
FELMAN, AH ;
FRIAS, JL .
AMERICAN JOURNAL OF ROENTGENOLOGY, 1977, 129 (04) :631-638
[2]  
GIEDION A, 1966, HELV PAEDIATR ACTA, V21, P475
[3]  
GIEDION A, 1973, HELV PAEDIATR ACTA, V28, P2249
[4]  
Greulich W.W., 1971, RADIOGRAPHIC ATLAS S
[5]   Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III [J].
Lüdecke, HJ ;
Schaper, J ;
Meinecke, P ;
Momeni, P ;
Gross, S ;
von Holtum, D ;
Hirche, H ;
Abramowicz, MJ ;
Albrecht, B ;
Apacik, C ;
Christen, HJ ;
Claussen, U ;
Devriendt, K ;
Fastnacht, E ;
Forderer, A ;
Friedrich, U ;
Goodship, THJ ;
Greiwe, M ;
Hamm, H ;
Hennekam, RCM ;
Hinkel, GK ;
Hoeltzenbein, M ;
Kayserili, H ;
Majewski, F ;
Mathieu, M ;
McLeod, R ;
Midro, AT ;
Moog, U ;
Nagai, T ;
Niikawa, N ;
Orstavik, KH ;
Plöchl, E ;
Seitz, C ;
Schmidtke, J ;
Tranebjærg, L ;
Tsukahara, M ;
Wittwer, B ;
Zabel, B ;
Gillessen-Kaesbach, G ;
Horsthemke, B .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (01) :81-91
[6]   Genotype phenotype correlation in achondroplasia and hypochondroplasia [J].
Matsui, Y ;
Yasui, N ;
Kimura, T ;
Tsumaki, N ;
Kawabata, H ;
Ochi, T .
JOURNAL OF BONE AND JOINT SURGERY-BRITISH VOLUME, 1998, 80B (06) :1052-1056
[7]   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
[8]   Trichorhinophalangeal syndrome type I in monozygotic twins discordant for hip pathology. Report on the morphological evolution of cone-shaped epiphyses and the unusual pattern of skeletal maturation [J].
Naselli, A ;
Vignolo, M ;
Di Battista, E ;
Papale, V ;
Aicardi, G ;
Becchetti, S ;
Toma, P .
PEDIATRIC RADIOLOGY, 1998, 28 (11) :851-855