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23 results
  1. Nail-Patella Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1132
    ... S, Lenting A, Bongers EM, van Kampen A. Nail patella syndrome: knee symptoms and surgical outcomes. a questionnaire-based survey. Orthop ...
  2. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... the skin, but they do not cause any symptoms and are usually detected on a pelvic x-ray. Iliac horns are very common in people with nail-patella syndrome and are rarely, if ever, seen in people ...
  3. Glaucoma 
    https://medlineplus.gov/glaucoma.html
    Glaucoma is a group of eye diseases that can damage the optic nerve and cause vision loss and blindness. A comprehensive eye exam can tell if you have ...
  4. Dyskeratosis Congenita and Related Telomere Biology Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK22301
    ... 3. Disorders with Nail Dysplasia in the Differential Diagnosis of Dyskeratosis Congenita and ... Nail-patella syndrome AD Classic clinical tetrad of changes in nails, ...
  5. Schimke Immunoosseous Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1376
    ... of neurologic sequelae in conorenal syndrome LMX1B Nail-patella syndrome ... Diagnosis of Schimke Immunoosseous Dysplasia: Hereditary Osteochondrodysplasias Associated with ...
  6. Nail-patella syndrome 
    https://medlineplus.gov/genetics/condition/nail-patella-syndrome
    ... the LMX1B gene lead to the signs and symptoms of nail-patella syndrome. LMX1B Nail-patella syndrome is inherited in an ...
  7. LMX1B gene 
    https://medlineplus.gov/genetics/gene/lmx1b
    ... the LMX1B gene lead to the signs and symptoms of nail-patella syndrome. More About This Health Condition LIM homeo box ...
  8. Anonychia congenita 
    https://medlineplus.gov/genetics/condition/anonychia-congenita
    ... of the body, including Coffin-Siris syndrome and nail-patella syndrome. When anonychia congenita is part of a syndrome, ... by mutations in the gene associated with that syndrome. ... Absent nails Anonychia Aplastic nails Congenital absence of nails Hyponychia ...
  9. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/nail-patella-syndrome</url><title >Nail-patella syndrome</title><other_names >< ...
  10. Sphingosine Phosphate Lyase Insufficiency Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK562988
    ... Adrenal calcifications Hepatic fibrosis & cirrhosis; intestinal malabsorption LMX1B Nail-patella syndrome AD Steroid-resistant nephrotic syndrome; sensorineural hearing loss ...
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