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patella
- Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The features of nail-patella syndrome vary in severity between ...
- ... 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 ( ...
- ... 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 ...
- ... 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. ...
- ... the body, including Coffin-Siris syndrome and nail-patella syndrome. When anonychia congenita is part of a ...
- ... with normal stature, club foot, and double layered patella caused by a DTDST mutation. J Med Genet. ...
- ... disorder: RA for radial ray malformations, PA for patella and palate abnormalities, DI for diarrhea and dislocated ...