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Results 1 - 7 of 7 for patella
  1. Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The features of nail-patella syndrome vary in severity between ...
  2. ... show signs and symptoms of the condition. Ear, patella, short stature syndrome Microtia, absent patellae, micrognathia syndrome ... Genetic Testing Registry: Meier-Gorlin syndrome 5 Ear-patella-short stature syndrome National Organization for Rare Disorders ( ...
  3. ... LMX1B gene have been found to cause nail-patella syndrome. Most mutations result in the production of ... gene have also been shown to cause nail patella syndrome. It is unclear exactly how mutations in ...
  4. ... abnormality of the kneecap called a double-layered patella is also relatively common. The incidence of dominant ... with normal stature, club foot, and double layered patella caused by a DTDST mutation. J Med Genet. ...
  5. ... the body, including Coffin-Siris syndrome and nail-patella syndrome. When anonychia congenita is part of a ...
  6. ... with normal stature, club foot, and double layered patella caused by a DTDST mutation. J Med Genet. ...
  7. ... disorder: RA for radial ray malformations, PA for patella and palate abnormalities, DI for diarrhea and dislocated ...