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Asphyxiating thoracic dystrophy 4
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- ... Registry: Asphyxiating thoracic dystrophy 2 Genetic Testing Registry: Asphyxiating thoracic dystrophy 4 Genetic Testing Registry: Asphyxiating thoracic dystrophy 5 Genetic ...
- ... This Health Condition MedlinePlus Genetics provides information about Asphyxiating thoracic dystrophy More About This Health Condition c305C8.4 c380F5.1 gs114 IF140_HUMAN intraflagellar transport 140 ...
- ... type III tend to be more severe than asphyxiating thoracic dystrophy, and affected individuals usually die before or shortly after birth.About 10 DYNC2H1 gene mutations have been identified in people with SRPS type II, and at least 4 mutations have been found in people with SRPS ...
- ... were the first genetic changes found to cause asphyxiating thoracic dystrophy, an inherited disorder of bone growth characterized by ... underlie the abnormalities of bone growth characteristic of asphyxiating thoracic dystrophy.In some affected individuals, asphyxiating thoracic dystrophy is ...
- ... This Health Condition MedlinePlus Genetics provides information about Asphyxiating thoracic dystrophy More About This Health Condition WDR35 gene mutations ...