7q11.23 Duplication syndrome: Physical characteristics and natural history
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چکیده
منابع مشابه
Natural history of Rett syndrome.
Rett syndrome is a unique neurodevelopmental disorder, with onset of hypotonia, autistic tendency, and abnormalities of fine finger movements and gross movements of the arms in early infancy. Clinical features include specific age-dependent symptoms. Studies of early and late signs correlated locomotive dysfunction to language disability and stereotypy to regression of higher cortical functions...
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Statements such as 'joint symptoms are characteristically acute, short-lived, and transient' 330 may give the patient and physician a false expectation. For the occasional, fortunate individual Reiter's syndrome (RS) may be a self-limiting disease. In fact, the prognosis of RS is notoriously difficult to assess. The reasons for this are protean. (1) Many patients are young men who form a mobile...
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Despite considerable research, the mechanisms responsible for the vasospasm associated with Raynaud's syndrome are not well understood and there is no reliable diagnostic test. In the present studies, measurements of systolic pressure in locally cooled fingers were used to address these issues. We found that local cooling produced a marked decrease or loss of the apparent finger systolic pressu...
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The characteristics and natural history of alloimmunization to HLA were studied in five patients with Hunter's syndrome receiving long term transfusions of leukocytes collected from human leukocyte antigen (HLA) matched donors. Patients were not given any other blood component transfusions. All patients became alloimmunized at an average interval of eight months following an average of 15 trans...
متن کاملNatural history of Sanfilippo syndrome in Spain
BACKGROUND Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is caused by a deficiency in one of the four enzymes involved in the lysosomal degradation of heparan sulphate. Four MPS III types have been recognized, characterized by a large phenotypic heterogeneity. This is the first Spanish study describing the natural history of Sanfilippo patients (MPSIIIA, MPSIIIB and MPSIIIC)...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2015
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.37340