Chromosomes, genes and illness
DOI:
https://doi.org/10.24197/a3arvx91Keywords:
Chromosomes, genes, Illness, otorhinolaryngologyAbstract
The paper is divided into two distinct sections: diseases caused by chromosomal abnormalities and diseases caused by gene abnormalities. Both parts are preceded by a presentation of basic molecular biology concepts that are useful for better understanding the etiopathogenesis of the diseases described. Abnormalities affecting chromosomes or genes can produce numerous pathological entities; we have chosen to describe here those we believe to be the most important, those that—despite their rarity—are likely to be recognized through extensive clinical experience, and those most closely related to otorhinolaryngology.
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