Okihiro syndrome and acro-renal-ocular syndrome:: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families

被引:13
作者
Becker, K
Beales, PL
Calver, DM
Matthijs, G
Mohammed, SN
机构
[1] Guys Hosp, Guys & St Thomass NHS Trust, Genet Ctr, London SE1 9RT, England
[2] Guys Hosp, Dept Ophthalmol, London SE1 9RT, England
[3] Catholic Univ Louvain, Ctr Human Genet, B-3000 Louvain, Belgium
[4] UCL, Inst Child Hlth, Mol Med Unit, London WC1N 1EH, England
关键词
D O I
10.1136/jmg.39.1.68
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:68 / 71
页数:4
相关论文
共 26 条
[1]  
Aalfs CM, 1996, AM J MED GENET, V62, P276, DOI 10.1002/(SICI)1096-8628(19960329)62:3<276::AID-AJMG14>3.0.CO
[2]  
2-H
[3]   PAX2 mutations in renal-coloboma syndrome:: mutational hotspot and germline mosaicism [J].
Amiel, J ;
Audollent, S ;
Joly, D ;
Dureau, P ;
Salomon, R ;
Tellier, AL ;
Augé, J ;
Bouissou, F ;
Antignac, C ;
Gubler, MC ;
Eccles, MR ;
Munnich, A ;
Vekemans, M ;
Lyonnet, S ;
Attié-Bitach, T .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2000, 8 (11) :820-826
[4]   Localization of a gene for Duane retraction syndrome to chromosome 2q31 [J].
Appukuttan, B ;
Gillanders, E ;
Juo, SH ;
Freas-Lutz, D ;
Ott, S ;
Sood, R ;
Van Auken, A ;
Bailey-Wilson, J ;
Wang, XG ;
Patel, RJ ;
Robbins, CM ;
Chung, M ;
Annett, G ;
Weinberg, K ;
Borchert, MS ;
Trent, JM ;
Brownstein, MJ ;
Stout, JT .
AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (06) :1639-1646
[5]   Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene [J].
Calabrese, G ;
Stuppia, L ;
Morizio, E ;
Franchi, PG ;
Pompetti, F ;
Mingarelli, R ;
Marsilio, T ;
Rocchi, M ;
Gallenga, PE ;
Palka, G ;
Dallapiccola, B .
EUROPEAN JOURNAL OF HUMAN GENETICS, 1998, 6 (03) :187-193
[6]  
Collins A, 1993, Clin Dysmorphol, V2, P237
[7]   ASSOCIATION OF FAMILIAL DUANE ANOMALY AND UROGENITAL ABNORMALITIES WITH A BISATELLITED MARKER DERIVED FROM CHROMOSOME-22 [J].
CULLEN, P ;
RODGERS, CS ;
CALLEN, DF ;
CONNOLLY, VM ;
EYRE, H ;
FELLS, P ;
GORDON, H ;
WINTER, RM ;
THAKKER, RV .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 47 (06) :925-930
[8]   Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330) [J].
Devriendt, K ;
Matthijs, G ;
Van Damme, B ;
Van Caesbroeck, D ;
Eccles, M ;
Vanrenterghem, Y ;
Fryns, JP ;
Leys, A .
HUMAN GENETICS, 1998, 103 (02) :149-153
[9]   Renal-coloboma syndrome:: a multi-system developmental disorder caused by PAX2 mutations [J].
Eccles, MR ;
Schimmenti, LA .
CLINICAL GENETICS, 1999, 56 (01) :1-9
[10]   Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31 [J].
Evans, JC ;
Frayling, TM ;
Ellard, S ;
Gutowski, NH .
HUMAN GENETICS, 2000, 106 (06) :636-638