- Gray platelet syndrome is a bleeding disorder associated with abnormal platelets, which are small blood cells involved in blood clotting. People with this ...
- Platelets help wounds heal and prevent bleeding by forming blood clots. Learn about problems from having too few, too many, or abnormal platelets. ... Platelets, also ...
- ... OMIM 187800 ) AD NA (nonsyndromic) NBEAL2 Gray platelet syndrome (OMIM ... recessive; DiffDx = differential diagnosis; ID = intellectual disability; MOI = mode of inheritance; NA = ...
- ... written as 5p- (5p minus). The signs and symptoms of cri-du-chat syndrome are probably related to the loss of multiple ... Zhang X, Niebuhr A, Albertson D, Yang H, Gray J, Niebuhr E, Bolund L, Pinkel ... du chat syndrome using array comparative genomic hybridization. Am J Hum ...
- ... with certain COL1A1 mutations exhibit the signs and symptoms of both osteogenesis imperfecta and Ehlers-Danlos syndrome (described above). These mutations usually replace the amino ...
- ... 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 ...
- ... published></health-condition-summary><health-condition-summary ><name >Gray platelet syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
- ... topic><topic ><url >https://medlineplus.gov/genetics/condition/gray-platelet-syndrome</url><title >Gray platelet syndrome</title><other_names >< ...
- ... 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. ...
- ... Griscelli syndrome (see Table 2b ). Table 2b. Differential Diagnosis of Hermansky-Pudlak Syndrome: Disorders of Platelet Delta Granules View in own window Gene(s) ...
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