Robinow syndrome

被引：108

作者：

Patton, MA ^{[1
]}

Afzal, AR ^{[1
]}

机构：

[1] St George Hosp, Sch Med, Dept Med Genet, London SW17 0RE, England

来源：

JOURNAL OF MEDICAL GENETICS | 2002年 / 39卷 / 05期

关键词：

D O I：

10.1136/jmg.39.5.305

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

In 1969, Robinow and colleagues described a syndrome of mesomelic shortening, hemivertebrae, genital hypoplasia, and "fetal facies". Over 100 cases have now been reported and we have reviewed the current knowledge of the clinical and genetic features of the syndrome. The gene for the autosomal recessive form was identified as the ROR2 gene on chromosome 9q22. ROR2 is a receptor tyrosine kinase with ortholoques in mouse and other species. The same gene, ROR2, has been shown to cause autosomal dominant brachydactyly B, but it is not known at present whether the autosomal dominant form of Robinow syndrome is also caused by mutations in ROR2.

引用

页码：305 / 310

页数：6

共 39 条

[1] Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2
Afzal, AR
Rajab, A
Fenske, CD
Oldridge, M
Elanko, N
Ternes-Pereira, E
Tüysüz, B
Murday, VA
Patton, MA
Wilkie, AOM
Jeffery, S
[J]. NATURE GENETICS, 2000, 25 (04) : 419 - 422
[2] Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22
Afzal, AR
Rajab, A
Fenske, C
Crosby, A
Lahiri, N
Ternes-Pereira, E
Murday, VA
Houlston, R
Patton, MA
Jeffery, S
[J]. HUMAN GENETICS, 2000, 106 (03) : 351 - 354
[3] Al-Ata J, 1998, AM J MED GENET, V77, P332, DOI 10.1002/(SICI)1096-8628(19980526)77:4<332::AID-AJMG16>3.0.CO
[4] 2-J
[5] ROBINOW SYNDROME WITHOUT MESOMELIC BRACHYMELIA - A REPORT OF 5 CASES
BAIN, MD
WINTER, RM
BURN, J
[J]. JOURNAL OF MEDICAL GENETICS, 1986, 23 (04) : 350 - 354
[6] Balci S, 1998, AM J MED GENET, V79, P27, DOI 10.1002/(SICI)1096-8628(19980827)79:1<27::AID-AJMG7>3.0.CO
[7] 2-F
[8] Balci S, 1993, Clin Dysmorphol, V2, P165
[9] Ror2, encoding a receptor-like tyrosine kinase, is required for cartilage and growth plate development
DeChiara, TM
Kimble, RB
Poueymirou, WT
Rojas, J
Masiakowski, P
Valenzuela, DM
Yancopoulos, GD
[J]. NATURE GENETICS, 2000, 24 (03) : 271 - 274
[10] A C-elegans Ror receptor tyrosine kinase regulates cell motility and asymmetric cell division
Forrester, WC
Dell, M
Perens, E
Garriga, G
[J]. NATURE, 1999, 400 (6747) : 881 - 885

← 1 2 3 4 →