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Genetics for ENT Specialists

Genetics for ENT Specialists

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A medical reference book, Genetics for ENT Specialists, intended to provide practitioners with an overview of genetic advances to improve patient management in the field of otolaryngology. The comprehensive text details numerous hereditary disorders, dedicating extensive space to inherited nonsyndromic and syndromic hearing impairment (SNHI), thoroughly documenting conditions such as Usher syndrome and various DFNA and DFNB types, including their gene loci and clinical manifestations. Beyond hearing loss, the material covers genetic conditions affecting rhinology, craniosynostoses (like Crouzon and Apert syndromes), and complex mitochondrial diseases that present with ENT symptoms. To assist the reader, the resource includes diagnostic tables, practical guidance on inheritance patterns and counseling issues, and an essential molecular genetics glossary defining scientific terminology like alleles and penetrance. Ultimately, this detailed reference work supports a multidisciplinary approach to accurately diagnose and manage these inherited otorhinolaryngologic conditions.

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