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80 results
  1. ... Sankaran et al 2012 ]. Genetically Related (Allelic) Disorders "Gray platelet syndrome" (GPS) has been used to describe a genetically ... g., hearing loss, cataract, renal defects). NBEAL2 2 Gray platelet syndrome (OMIM 139090 ) AR 3 Pale platelets &/or absent ...
  2. ... published></health-condition-summary><health-condition-summary ><name >Gray platelet syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  3. ... topic><topic ><url >https://medlineplus.gov/genetics/condition/gray-platelet-syndrome</url><title >Gray platelet syndrome</title><other_names >< ...
  4. ... ITGB3 -RT (OMIM 187800 ) AD NA (nonsyndromic) NBEAL2 Gray platelet syndrome (OMIM 139090 ) AR NA (nonsyndromic); hallmark finding is "pale" (gray) platelets on peripheral blood films due to lack ...
  5. ... Glanzmann thrombasthenia: MedlinePlus Genetics (National Library of Medicine) Gray platelet syndrome: MedlinePlus Genetics (National Library of Medicine) Hermansky-Pudlak ...
  6. ... in affected family members. MLPH MYO5A RAB27A Griscelli syndrome ... Platelet-dense bodies are present & platelet function is normal. ...
  7. Gray platelet syndrome is a bleeding disorder associated with abnormal platelets, which are small blood cells involved in blood clotting. People with this ...
  8. ... the NBEAL2 gene have been found to cause gray platelet syndrome, a disorder associated with abnormal bleeding. Most people with gray platelet syndrome also develop a condition called myelofibrosis, which is ...
  9. ... Zhang X, Niebuhr A, Albertson D, Yang H, Gray J, Niebuhr E, Bolund L, Pinkel D. High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization. Am J Hum ...
  10. ... the classical and vascular types of Ehlers-Danlos syndrome. More About This Health ... affected individuals can have a blue or grey tint to the part of the eye that ...
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