Albinism, Cri Du Chat Syndrome, And Reilly Syndrome (CIPA): Features, Genetics, Diagnosis, And Treatment
Aziza Abdullaivna ChutanovaDepartment of Medical Biology and Histology , Tashkent Medical Academy , Termez Branch , UzbekistanShahzoda Fayzulloevna MukhiddinovaFaculty of Pediatrics , Group 101 , Tashkent Medical Academy , Termez Branch , Uzbekistan
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This article discusses three rare genetic diseases — albinism, Cri du Chat syndrome, and Reilly syndrome (congenital insensitivity to pain with anhidrosis). Their main clinical manifestations, diagnostic methods, features of genetic transmission, and modern approaches to treatment are described. An overview of the impact of these diseases on the quality of life of patients and the prospects for medical care is presented.
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