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Cranioectodermal dysplasia 2
- ... Testing Registry: Cranioectodermal dysplasia 1 Genetic Testing Registry: Cranioectodermal dysplasia 2 Genetic Testing Registry: Cranioectodermal dysplasia 3 Genetic Testing ...
- ... 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 ( ...
- ... 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 ...
- ... 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 ...
- ... 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 ...