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Results 1 - 6 of 6 for Cranioectodermal dysplasia 2
  1. Cranioectodermal dysplasia 
    ... Testing Registry: Cranioectodermal dysplasia 1 Genetic Testing Registry: Cranioectodermal dysplasia 2 Genetic Testing Registry: Cranioectodermal dysplasia 3 Genetic Testing ...
    https://medlineplus.gov/.../condition/cranioectodermal-dysplasia - Genetics
  2. WDR19 gene 
    ... complex in this pathway is unclear. At least two mutations in the WDR19 gene have been found in individuals with cranioectodermal dysplasia. This condition is characterized by an elongated head ( ...
    https://medlineplus.gov/genetics/gene/wdr19 - Genetics
  3. WDR35 gene 
    ... the most commonly mutated gene in people with cranioectodermal dysplasia; at least eight mutations in this gene have ... and skin.The WDR35 gene mutations involved in cranioectodermal dysplasia reduce the amount of functional WDR35 protein. A ...
    https://medlineplus.gov/genetics/gene/wdr35 - Genetics
  4. IFT122 gene 
    ... unclear. Mutations in the IFT122 gene can cause cranioectodermal dysplasia. This condition is characterized by an elongated head ( ... gene mutations have been found in people with cranioectodermal dysplasia. These mutations reduce the amount or function of ...
    https://medlineplus.gov/genetics/gene/ift122 - Genetics
  5. IFT43 gene 
    ... the IFT43 gene is a rare cause of cranioectodermal dysplasia. This condition is characterized by an elongated head ( ... and skin.The IFT43 gene mutation involved in cranioectodermal dysplasia leads to production of an abnormally short IFT43 ...
    https://medlineplus.gov/genetics/gene/ift43 - Genetics
  6. Bone Diseases (National Library of Medicine)  
    Your bones help you move, give you shape and support your body. They are living tissues that rebuild constantly throughout your life. During childhood and ...
    https://medlineplus.gov/bonediseases.html - Health Topics