Divya Gupta, Tim George Jose, Gurudatta Baraka Vishwanathan
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引用次数: 0
Abstract
Dermatology encompasses a broad range of conditions, ranging from single-gene disorders to common complex disorders characterised by polygenic risk factors like psoriasis and atopic dermatitis. For clinicians, understanding the genetic basis of these conditions is essential for accurate diagnosis, effective management, and appropriate genetic counselling. This article aims to revisit fundamental genetic concepts, offering a foundation to a better understanding of their application in clinical practice. It introduces the fundamental genetic terminology relevant for dermatologists, along with types of mutations, inheritance patterns, key elements of pedigree charts, and major online genetic databases, which serve as valuable resources for interpreting test results and identifying disease-associated variants. Additionally, it briefly explores the basics of genetic epidemiology, including linkage analysis, and association studies.
期刊介绍：
The Indian Association of Dermatologists, Venereologists & Leprologists (IADVL) is the national association of Indian medical specialists who manage patients with skin disorders, sexually transmitted infections (STIs) or leprosy. The current member strength of the association is about 3800. The association works for the betterment of the specialty by holding academic meetings, printing a journal and publishing a textbook. The IADVL has several state branches, each with their own office bearers, which function independently within the constitution of the IADVL.
Established in 1940, the Indian Journal of Dermatology, Venereology and Leprology (IJDVL, ISSN 0378-6323) is the official publication of the IADVL (Indian Association of Dermatologists, Venereologists and Leprologists).
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