A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome

被引：17

作者：

Boardman, JP

Syrris, P

Holder, SE

Robertson, NJ

Carter, N

Lakhoo, K

机构：

[1] NW London Hosp NHS Trust, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, England

[2] Hammersmith Hosp, Dept Paediat & Paediat Surg, London W12 0HS, England

[3] Univ London St Georges Hosp, Sch Med, Med Genet Unit, London SW17 0RE, England

来源：

JOURNAL OF MEDICAL GENETICS | 2001年 / 38卷 / 09期

关键词：

D O I：

10.1136/jmg.38.9.646

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：646 / 647

页数：2

共 9 条

[1] MUTATION OF THE ENDOTHELIN-RECEPTOR-B GENE IN WAARDENBURG-HIRSCHSPRUNG-DISEASE [J].

ATTIE, T ;

TILL, M ;

PELET, A ;

AMIEL, J ;

EDERY, P ;

BOUTRAND, L ;

MUNNICH, A ;

LYONNET, S .

HUMAN MOLECULAR GENETICS, 1995, 4 (12) :2407-2409

[2]

Chakravarti A, 1996, HUM MOL GENET, V5, P303

[3] Mutation analysis of the RET, the endothelin-B receptor, and the endothelin-3 genes in sporadic cases of Hirschsprung's disease [J].

Kusafuka, T ;

Wang, YP ;

Puri, P .

JOURNAL OF PEDIATRIC SURGERY, 1997, 32 (03) :501-504

[4]

Kusafuka T, 1998, Semin Pediatr Surg, V7, P148

[5]

MOORE MA, 1998, HIGH BLOOD PRESS, V7, P1

[6] SOX10 mutations in patients with Waardenburg-Hirschsprung disease [J].

Pingault, V ;

Bondurand, N ;

Kuhlbrodt, K ;

Goerich, DE ;

Préhu, MO ;

Puliti, A ;

Herbarth, B ;

Hermans-Borgmeyer, I ;

Legius, E ;

Matthijs, G ;

Amiel, J ;

Lyonnet, S ;

Ceccherini, I ;

Romeo, G ;

Smith, JC ;

Read, AP ;

Wegner, M ;

Goossens, M .

NATURE GENETICS, 1998, 18 (02) :171-173

[7] Point nucleotidic changes in both the RET proto-oncogene and the endothelin-B receptor gene in a Hirschsprung disease patient associated with Down syndrome [J].

Sakai, T ;

Wakizaka, A ;

Nirasawa, Y ;

Ito, Y .

TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE, 1999, 187 (01) :43-47

[8] Germline mutations of the RET ligand GDNF are not sufficient to cause hirschsprung disease [J].

Salomon, R ;

Attie, T ;

Pelet, A ;

Bidaud, C ;

Eng, C ;

Amiel, J ;

Sarnacki, S ;

Goulet, O ;

Ricour, C ;

NihoulFekete, C ;

Munnich, A ;

Lyonnet, S .

NATURE GENETICS, 1996, 14 (03) :345-347

[9]

SPRITZ RA, 1992, AM J HUM GENET, V50, P261

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