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434 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. ... 120 Bernard-Soulier Syndrome C15.378.140.427 Gray Platelet Syndrome C15.378.140.735 Platelet Storage Pool Deficiency ... 335 Factor XIII Deficiency C16.320.099.417 Gray Platelet Syndrome C16.320.099.500 Hemophilia A C16.320. ...
  5. ... 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 ...
  6. ... Glanzmann thrombasthenia: MedlinePlus Genetics (National Library of Medicine) Gray platelet syndrome: MedlinePlus Genetics (National Library of Medicine) Hermansky-Pudlak ...
  7. ... in affected family members. MLPH MYO5A RAB27A Griscelli syndrome ... Platelet-dense bodies are present & platelet function is normal. ...
  8. Gray platelet syndrome is a bleeding disorder associated with abnormal platelets, which are small blood cells involved in blood clotting. People with this ...
  9. ... 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 ...
  10. ... 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 ...
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