A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome -: art. no. e49

被引：28

作者：

Frisén, L

Lagerstedt, K

Tapper-Persson, M

Kockum, I

Nordenskjöld, A

机构：

[1] Karolinska Hosp, Karolinska Inst, Dept Women & Child Hlth, SE-17176 Stockholm, Sweden

[2] Karolinska Hosp, Astrid Lindgren Children Hosp, Dept Women & Child Hlth, SE-17176 Stockholm, Sweden

来源：

JOURNAL OF MEDICAL GENETICS | 2003年 / 40卷 / 04期

关键词：

D O I：

10.1136/jmg.40.4.e49

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页数：6

共 49 条

[1] Risk factor patterns for cryptorchidism and hypospadias [J].

Akre, O ;

Lipworth, L ;

Cnattingius, S ;

Sparén, P ;

Ekbom, A .

EPIDEMIOLOGY, 1999, 10 (04) :364-369

[2]

BAUER SB, 1981, UROL CLIN N AM, V8, P559

[3] The mouse Hoxd13spdh mutation, a polyalanine expansion similar to human type II synpolydactyly (SPD), disrupts the function but not the expression of other Hoxd genes [J].

Bruneau, S ;

Johnson, KR ;

Yamamoto, M ;

Kuroiwa, A ;

Duboule, D .

DEVELOPMENTAL BIOLOGY, 2001, 237 (02) :345-353

[4] ETIOLOGIC FACTORS IN HYPOSPADIAS [J].

CALZOLARI, E ;

CONTIERO, MR ;

RONCARATI, E ;

MATTIUZ, PL ;

VOLPATO, S .

JOURNAL OF MEDICAL GENETICS, 1986, 23 (04) :333-337

[5] GENETIC STUDIES ON HYPOSPADIAS IN MALES [J].

CHEN, YC ;

WOOLLEY, PV .

JOURNAL OF MEDICAL GENETICS, 1971, 8 (02) :153-+

[6] HAND-FOOT-GENITAL SYNDROME - THE IMPORTANCE OF HALLUX-VARUS [J].

CLEVELAND, RH ;

HOLMES, LB .

PEDIATRIC RADIOLOGY, 1990, 20 (05) :339-343

[7]

den Dunnen JT, 2000, HUM MUTAT, V15, P7

[8] Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent ductus botalli [J].

Devriendt, K ;

Jaeken, J ;

Matthijs, G ;

Van Esch, H ;

Debeer, P ;

Gewillig, M ;

Fryns, JP .

AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (01) :249-251

[9] UPDATE ON A FAMILY WITH HAND FOOT GENITAL SYNDROME - HYPOSPADIAS AND URINARY-TRACT ABNORMALITIES IN 2 BOYS FROM THE 4TH GENERATION [J].

DONNENFELD, AE ;

SCHRAGER, DS ;

CORSON, SL .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 44 (04) :482-484

[10] Heredity of hypospadias and the significance of low birth weight [J].

Fredell, L ;

Kockum, I ;

Hansson, E ;

Holmner, S ;

Lundquist, L ;

Läckgren, G ;

Pedersen, J ;

Stenberg, A ;

Westbacke, G ;

Nordenskjöld, A .

JOURNAL OF UROLOGY, 2002, 167 (03) :1423-1427

← 1 2 3 4 5 →