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GENATLAS PHENOTYPE |
last update : 28-11-2012 |
Symbol | DIH2 |
Location | 8p23.1 |
Name | congenital diaphragmatic hernia and 8p23.1 deletion |
Corresponding gene | GATA4 , SOX7 |
Other symbol(s) | CDH, DEL8P23 |
Main clinical features |
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Genetic determination | chromosomal |
Related entries | CDH15Q, CDH1Q |
Function/system disorder | respiratory |
Type | malformation |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
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| deletion
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Remark(s) | There is evidence for substantial genetic heterogeneity in CDH. |