Recessive multiple epiphyseal dysplasia (rMED):: phenotype delineation in eighteen homozygotes for DTDST mutation R279W

被引：55

作者：

Ballhausen, D

Bonafé, L

Terhal, P

Unger, SL

Bellus, G

Classen, M

Hamel, BC

Spranger, J

Zabel, B

Cohn, DH

Cole, WG

Hecht, JT

Superti-Furga, A

机构：

[1] Univ Zurich, Childrens Hosp, Div Metab & Mol Paediat, Zurich, Switzerland

[2] Wilhelmina Childrens Hosp, Dept Med Genet, Utrecht, Netherlands

[3] Univ Calif Los Angeles, Sch Med, Ahmanson Dept Pediat, Burns & Allen Cedars Sinai Res Inst, Los Angeles, CA USA

[4] Univ Calif Los Angeles, Sch Med, Dept Human Genet & Pediat, Los Angeles, CA USA

[5] Univ Colorado, Hlth Sci Ctr, Dept Dermatol, Denver, CO 80202 USA

[6] Zentralkrankenhaus Links Weser, Bremen, Germany

[7] Univ Nijmegen Hosp, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

[8] Greenwood Genet Ctr, Greenwood, SC 29646 USA

[9] Johannes Gutenberg Univ Mainz, Kinderklin, D-6500 Mainz, Germany

[10] Hosp Sick Children, Div Orthopaed Surg, Toronto, ON M5G 1X8, Canada

[11] Univ Texas, Sch Med, Dept Pediat, Houston, TX USA

[12] Univ Texas, Sch Med, Dept Med Genet, Houston, TX USA

来源：

JOURNAL OF MEDICAL GENETICS | 2003年 / 40卷 / 01期

关键词：

D O I：

10.1136/jmg.40.1.65

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：65 / 71

页数：7

共 26 条

[1]

Bonafe L, 2002, J Med Genet, V39, pe20, DOI 10.1136/jmg.39.4.e20

[2] PSEUDOACHONDROPLASIA AND MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO MUTATIONS IN THE CARTILAGE OLIGOMERIC MATRIX PROTEIN GENE [J].

BRIGGS, MD ;

HOFFMAN, SMG ;

KING, LM ;

OLSEN, AS ;

MOHRENWEISER, H ;

LEROY, JG ;

MORTIER, GR ;

RIMOIN, DL ;

LACHMAN, RS ;

GAINES, ES ;

CEKLENIAK, JA ;

KNOWLTON, RG ;

COHN, DH .

NATURE GENETICS, 1995, 10 (03) :330-336

[3] Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia [J].

Chapman, KL ;

Mortier, GR ;

Chapman, K ;

Loughlin, J ;

Grant, ME ;

Briggs, MD .

NATURE GENETICS, 2001, 28 (04) :393-396

[4] Double-layered manubrium sterni in young children with diastrophic dysplasia [J].

Currarino, G .

PEDIATRIC RADIOLOGY, 2000, 30 (06) :404-409

[5] A mutation in COL9A1 causes multiple epiphyseal dysplasia:: Further evidence for locus heterogeneity [J].

Czarny-Ratajczak, M ;

Lohiniva, J ;

Rogala, P ;

Kozlowski, K ;

Perälä, M ;

Carter, L ;

Spector, TD ;

Kolodziej, L ;

Seppänen, U ;

Glazar, R ;

Królewski, J ;

Latos-Bielenska, A ;

Ala-Kokko, L .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (05) :969-980

[6]

DEERE M, 1995, AM J HUM GENET, V56, P698

[7] DYSPLASIA EPIPHYSEALIS MULTIPLEX [J].

FAIRBANK, HAT .

PROCEEDINGS OF THE ROYAL SOCIETY OF MEDICINE-LONDON, 1946, 39 (06) :315-317

[8] THE DIASTROPHIC DYSPLASIA GENE ENCODES A NOVEL SULFATE TRANSPORTER - POSITIONAL CLONING BY FINE-STRUCTURE LINKAGE DISEQUILIBRIUM MAPPING [J].

HASTBACKA, J ;

DELACHAPELLE, A ;

MAHTANI, MM ;

CLINES, G ;

REEVEDALY, MP ;

DALY, M ;

HAMILTON, BA ;

KUSUMI, K ;

TRIVEDI, B ;

WEAVER, A ;

COLOMA, A ;

LOVETT, M ;

BUCKLER, A ;

KAITILA, I ;

LANDER, ES .

CELL, 1994, 78 (06) :1073-1087

[9]

Hastbacka J, 1996, AM J HUM GENET, V58, P255

[10] MUTATIONS IN EXON 17B OF CARTILAGE OLIGOMERIC MATRIX PROTEIN (COMP) CAUSE PSEUDOACHONDROPLASIA [J].

HECHT, JT ;

NELSON, LD ;

CROWDER, E ;

WANG, Y ;

ELDER, FFB ;

HARRISON, WR ;

FRANCOMANO, CA ;

PRANGE, CK ;

LENNON, GG ;

DEERE, M ;

LAWLER, J .

NATURE GENETICS, 1995, 10 (03) :325-329

← 1 2 3 →