- 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 >< ...
- ... Griscelli syndrome (see Table 2b ). Table 2b. Differential Diagnosis of Hermansky-Pudlak Syndrome: Disorders of Platelet Delta Granules View in own window Gene(s) ...
- ... higher fetal hemoglobin levels, older age, and lower platelet count at diagnosis. All patients with Noonan syndrome were in the hypomethylation group.[ 403 ] A study ...
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