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- ... gene have been found to cause Hermansky-Pudlak syndrome type 1. Individuals with this form of the ... The HPS1 gene mutations that cause Hermansky-Pudlak syndrome type 1 impair the normal function of BLOC- ...
- ... the WRN gene are known to cause Werner syndrome. Most of these mutations result in an abnormally ... lead to the signs and symptoms of Werner syndrome. More About This Health Condition MedlinePlus Genetics provides ...
- ... mutations have been identified in people with Bloom syndrome, an inherited disorder characterized by short stature, a ... gene mutation causes almost all cases of Bloom syndrome among people of Central and Eastern European (Ashkenazi) ...
- ... gene have been found to cause McKusick-Kaufman syndrome. McKusick-Kaufman syndrome is a condition that affects the development of ... variants have been found to cause McKusick-Kaufman syndrome in the Old Order Amish population. Each of ...
- ... provides instructions for making a protein called Cockayne syndrome A (CSA), which is involved in repairing damaged ... 30 ERCC8 gene mutations that can cause Cockayne syndrome. This rare condition includes a variety of features, ...
- ... have been reported to cause Ellis-van Creveld syndrome, an inherited disorder characterized by dwarfism, abnormal nails ... the signs and symptoms of Ellis-van Creveld syndrome, researchers believe that it may prevent normal Sonic ...
- ... have been found to cause Ellis-van Creveld syndrome, an inherited disorder characterized by dwarfism, abnormal nails ... the signs and symptoms of Ellis-van Creveld syndrome, researchers believe that it may prevent normal Sonic ...
- ... previously classified as an atypical form of Rett syndrome. However, CDKL5 deficiency disorder is now considered a separate condition. Rett syndrome, which affects development in girls and women, results ...
- ... have been identified in people with Treacher Collins syndrome, a condition that affects the development of bones ... problems with facial development found in Treacher Collins syndrome. However, it is unclear why the effects of ...
- ... gene have been identified in people with Usher syndrome type III, which is characterized by a combination ... a form of the condition known as Usher syndrome type IIIA (USH3A). This form of Usher syndrome ...
