نتایج جستجو برای: poikiloderma with neutropenia syndrome
تعداد نتایج: 9376087 فیلتر نتایج به سال:
cyclic neutropenia is a rare immunodeficiency syndrome, characterized by regular periodic oscillations in the circulating neutrophil count from normal to neutropenic levels through 3 weeks period, and lasting for 3-6 days. in order to determine the clinical features of cyclic neutropenia, this study was performed. seven patients with cyclic neutropenia (3 males and 4 females), who experienced n...
BACKGROUND Kindler syndrome (KS) is a rare genetic disorder that is characterized by blistering in infancy, followed by the onset of poikiloderma and photosensitivity in childhood. The recently elucidated molecular pathogenesis involves mutations in KIND1, a gene encoding the protein kindlin-1, which is involved in the attachment of the actin cytoskeleton to the extracellular matrix in basal ke...
Dyskeratosis congenita is a highly pleotropic genetic disorder. This heterogeneity can lead to difficulties in making an accurate diagnosis and delays in appropriate management. The aim of this study was to determine the underlying genetic basis in patients presenting with features of dyskeratosis congenita and who were negative for mutations in the classical dyskeratosis congenita genes. By wh...
kindler syndrome is a rare hereditary disorder that predominantly involves the skin and mucous membrane. acral skin blistering, progressive photosensivity, skin atrophy and poikiloderma that begin from infancy and childhood are considered to be characteristic manifestations. urethral, anal, esophageal, mouth and laryngeal mucosa may be involved in this syndrome, thus periodontitis and gingival ...
Two Italian patients with the initial clinical diagnosis of Rothmund-Thomson syndrome were negative for RECQL4 mutations but showed in peripheral blood cells a spontaneous chromosomal instability significantly higher than controls. Revisiting after time their phenotype, suggestive matching autosomal dominant Poikiloderma, Hereditary Fibrosing Tendon Contracture, Myopathy and Pulmonary fibrosis ...
kindler syndrome (ks) is a rare, autosomal recessive genodermatosis characterized by skin blistering and photosensitivity in infancy, progressive poikiloderma, and diffuse cutaneous atrophy. it affects the skin, mucous membranes, and oral cavity and is caused by mutations in the kind1 gene on 20p12.3. the first case of ks associated with periodontitis was reported in 1996, and have been infrequ...
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