Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance

被引：15

作者：

Hall, CM

Elcioglu, NH

MacDermot, KD

Offiah, AC

Winter, RM

机构：

[1] Great Ormond St Hosp Children NHS Trust, Dept Radiol, London WC1N 3JH, England

[2] Marmara Univ Hosp, Dept Paediat Genet, TR-81190 Istanbul, Turkey

[3] Addenbrookes Hosp, Dept Med, Cambridge CB2 2QQ, England

[4] Inst Child Hlth, Dept Clin Genet, London WC1N 1EH, England

来源：

JOURNAL OF MEDICAL GENETICS | 2002年 / 39卷 / 09期

关键词：

D O I：

10.1136/jmg.39.9.666

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：666 / 670

页数：5

共 7 条

[1]

[Anonymous], ONL MEND INH MAN OM

[2] SPONASTRIME DYSPLASIA - REPORT ON A MALE-PATIENT [J].

CAMERA, G ;

CAMERA, A ;

POZZOLO, S ;

COSTA, P .

PEDIATRIC RADIOLOGY, 1994, 24 (05) :322-324

[3]

FANCONI S, 1983, HELV PAEDIATR ACTA, V38, P267

[4] A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations [J].

Hall, CM ;

Elcioglu, NH ;

Shaw, DG .

JOURNAL OF MEDICAL GENETICS, 1998, 35 (07) :566-572

[5]

*INT NOM GROUP, IN PRESS AM J MED GE

[6] Sponastrime dysplasia: Diagnostic criteria based on five new and six previously published cases [J].

Langer, LO ;

Beals, RK ;

Scott, CL .

PEDIATRIC RADIOLOGY, 1997, 27 (05) :409-414

[7] Sponastrime dysplasia: presentation in infancy [J].

Offiah, AC ;

Lees, M ;

Winter, RM ;

Hall, CM .

JOURNAL OF MEDICAL GENETICS, 2001, 38 (12) :889-893

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