Craniosynostosis and chromosome 22q11 deletion

被引:8
作者
Dean, JCS [1 ]
de Silva, DC
Reardon, W
机构
[1] Sch Med, Dept Med Genet, Aberdeen AB25 2ZD, Scotland
[2] Univ Ruhana, Galle, Sri Lanka
[3] Inst Child Hlth, Mothercare Unit Clin Genet & Fetal Med, London WC1N 1EH, England
关键词
D O I
10.1136/jmg.35.4.346
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:346 / 346
页数:1
相关论文
共 5 条
[1]   CRANIAL HEMIHYPERTROPHY AND NEURODEVELOPMENTAL PROGNOSIS [J].
DEAN, JCS ;
COLE, GF ;
APPLETON, RE ;
BURN, J ;
ROBERTS, SA ;
DONNAI, D .
JOURNAL OF MEDICAL GENETICS, 1990, 27 (03) :160-164
[2]   FAMILY STUDIES IN CHROMOSOME 22Q11 DELETION - FURTHER DEMONSTRATION OF PHENOTYPIC HETEROGENEITY [J].
DESILVA, D ;
DUFFTY, P ;
BOOTH, P ;
AUCHTERLONIE, I ;
MORRISON, N ;
DEAN, JCS .
CLINICAL DYSMORPHOLOGY, 1995, 4 (04) :294-303
[3]   A POPULATION-BASED STUDY OF CRANIOSYNOSTOSIS [J].
FRENCH, LR ;
JACKSON, IT ;
MELTON, LJ .
JOURNAL OF CLINICAL EPIDEMIOLOGY, 1990, 43 (01) :69-73
[4]   Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis [J].
Reardon, W ;
Wilkes, D ;
Rutland, P ;
Pulleyn, LJ ;
Malcolm, S ;
Dean, JCS ;
Evans, RD ;
Jones, BM ;
Hayward, R ;
Hall, CM ;
Nevin, NC ;
Baraitser, M ;
Winter, RM .
JOURNAL OF MEDICAL GENETICS, 1997, 34 (08) :632-636
[5]   Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study [J].
Ryan, AK ;
Goodship, JA ;
Wilson, DI ;
Philip, N ;
Levy, A ;
Seidel, H ;
Schuffenhauer, S ;
Oechsler, H ;
Belohradsky, B ;
Prieur, M ;
Aurias, A ;
Raymond, FL ;
ClaytonSmith, J ;
Hatchwell, E ;
McKeown, C ;
Beemer, FA ;
Dallapiccola, B ;
Novelli, G ;
Hurst, JA ;
Ignatius, J ;
Green, AJ ;
Winter, RM ;
Brueton, L ;
BrondumNielsen, K ;
Stewart, F ;
VanEssen, T ;
Patton, M ;
Paterson, J ;
Scambler, PJ .
JOURNAL OF MEDICAL GENETICS, 1997, 34 (10) :798-804