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HIRSCHSPRUNGS-DISEASE ASSOCIATED WITH A DELETION OF CHROMOSOME-10 (Q11.2Q21.2) - A FURTHER LINK WITH THE NEUROCRISTOPATHIES

被引：42
作者：
FEWTRELL, MS
TAM, PKH
THOMSON, AH
FITCHETT, M
CURRIE, J
HUSON, SM
MULLIGAN, LM
机构：
[1] CHURCHILL HOSP,DEPT MED GENET,OXFORD OX3 7LJ,ENGLAND
[2] CHURCHILL HOSP,OXFORD MED GENET LABS,OXFORD OX3 7LJ,ENGLAND
[3] UNIV CAMBRIDGE,DEPT PATHOL,CRC,HUMAN CANC GENET RES GRP,CAMBRIDGE,ENGLAND
[4] JOHN RADCLIFFE HOSP,OXFORD OX3 9DU,ENGLAND
来源：
JOURNAL OF MEDICAL GENETICS | 1994年 / 31卷 / 04期
关键词：
D O I：
10.1136/jmg.31.4.325
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We report a patient with total colonic aganglionosis in association with a deletion of part of the long arm of chromosome 10: (del(10)(q11.2q21.2)). This deletion includes the ret proto-oncogene, which has recently been implicated in multiple endocrine neoplasia type 2A (MEN 2A). The possible links between Hirschsprung's disease and the neurocristopathies and the aetiological role of abnormalities of neural crest development in these conditions are discussed.
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页码：325 / 327
页数：3
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