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Results 1 - 7 of 7 for Asphyxiating thoracic dystrophy 5
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  1. Asphyxiating thoracic dystrophy 
    ... Registry: Asphyxiating thoracic dystrophy 4 Genetic Testing Registry: Asphyxiating thoracic dystrophy 5 Genetic Testing Registry: Asphyxiating thoracic dystrophy 1 Genetic ...
    https://medlineplus.gov/.../asphyxiating-thoracic-dystrophy - Genetics
  2. DYNC2H1 gene 
    ... Munnich A, Cormier-Daire V. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet. 2009 May;84(5):706-11. doi: 10.1016/j.ajhg.2009. ...
    https://medlineplus.gov/genetics/gene/dync2h1 - Genetics
  3. WDR35 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Asphyxiating thoracic dystrophy More About This Health Condition WDR35 gene mutations can cause short-rib polydactyly type 5, a severe condition with signs and symptoms similar ...
    https://medlineplus.gov/genetics/gene/wdr35 - Genetics
  4. IFT80 gene 
    ... conserved intraflagellar transport protein, is mutated in Jeune asphyxiating ... pathways. Exp Cell Res. 2013 Mar 10;319(5):623-32. doi: 10.1016/j.yexcr.2012. ...
    https://medlineplus.gov/genetics/gene/ift80 - Genetics
  5. Polydactyly 
    Causes may include: Asphyxiating thoracic dystrophy Carpenter syndrome Ellis-van Creveld syndrome (chondroectodermal dysplasia) Familial polydactyly Laurence-Moon-Biedl syndrome Rubinstein-Taybi syndrome Smith-Lemli- ...
    https://medlineplus.gov/ency/article/003176.htm - Medical Encyclopedia
  6. IFT140 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Asphyxiating thoracic dystrophy More About This Health Condition c305C8.4 c380F5. ...
    https://medlineplus.gov/genetics/gene/ift140 - Genetics
  7. WDR19 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Asphyxiating thoracic dystrophy More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/wdr19 - Genetics