Three Members of One Family Suffering from Myotonia Hypertrophica—The Hypertrophic Form of Thomsen's Disease
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چکیده
منابع مشابه
Lipoid proteinosis: Report of three cases in one family
Lipoid proteinosis, a rare autosomal recessive disorder, presents in early childhood with hoarseness, skin infiltration and thickening, beaded papules on eyelid margins, and facial acneiform or pock- like scars. Although
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Macular corneal dystrophy (MCD) is an autosomal recessive hereditary disease. In most cases, various mutations in carbohydrate sulfotransferase 6 (CHST6) gene are the main cause of MCD. These mutations lead to a defect in keratan sulfate synthesis. Retinitis pigmentosa (RP) is another eye disorder with nyctalopia as its common symptom. It has been shown that more than 65 genes have been implica...
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چکیده ندارد.
15 صفحه اولInvestigating the Effect of Family-Centered Empowerment Model on the Lifestyle of Children Suffering From Leukemia
Introduction: Treatment and complaints related to leukemia not only affects the lifestyle of children but also affects other members of the family and even the community. Objective: Determining the effect of the family-centered empowerment model on the lifestyle of children suffering from leukemia. Materials and Methods: This clinical trial was conducted at Amirkabir Hospital of the city of A...
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ژورنال
عنوان ژورنال: Proceedings of the Royal Society of Medicine
سال: 1914
ISSN: 0035-9157
DOI: 10.1177/003591571400700274