نتایج جستجو برای: linked recessive
تعداد نتایج: 255427 فیلتر نتایج به سال:
In this issue of Arquivos de Neuro-Psiquiatria, Santos-Lobato and colleagues publish a systematic review the literature related to genetics Parkinson’s Disease (PD) in Brazil. It represents first attempt gather all current knowledge on monogenic forms PD large South American country. is now widely accepted that substantial proportion risk for driven by genetics. So far, more than dozen genes wi...
To the Editor : OFD1 mutations are responsible for X-linked dominant oral-facial-digital syndrome type I (OFDSI), as well as for four recessive X-linked phenotypes: mental retardation (MR) with macrocephaly, obesity, distal limb abnormalities and ciliary dysfunction [Simpson–Golabi–Behmel syndrome type 2 (SGBS2)], JS (Joubert syndrome) with polydactyly and retinal involvement (JBST10), an uncla...
Duchenne’s muscular dystrophy is the most common hereditary neuromuscular disease, which affects all races. Its classical characteristic clinical features being progressive weakness, intellectual impairment and hypertrophy of calves with proliferation connective tissue fibrosis in muscles. As disease inherited as an X-linked recessive trait, thus females not manifesting acting carriers only, se...
Introduction: Mental retardation is one of the most important problems of general health. The purpose of this study was to evaluate inheritance pattern of mentally retarded patients in Yazd city. Methods: In a descriptive cross- sectional study, all medical records and pedigrees of 320 mentally retarded children whose parents had referred for genetic consultation to the Welfare center of Yazd ...
Hemophilia A is an X-linked recessive hereditary bleeding illness that manifests as increased after moderate trauma and spontaneous bleeding. It caused by a deficiency of the clotting factor VIII (FVIII). We report video assisted-thoracoscopy in 48-year-old patient with A. shouldn't be barrier to invasive surgery, but there are few conditions must met ensure straightforward intraoperative posto...
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