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Noonan syndrome (NS) is an autosomal dominant inherited disorder. NS can be confirmed genetically by the presence of any of the known mutations. However, despite identification of fourteen causative genes, the absence of a known gene mutation will not exclude the diagnosis, as there are more undiscovered genes that cause NS. A well-known oral manifestation of Noonan syndrome is multiple unerupted teeth. Thus, the diagnosis of NS is still based on clinical features.We report a case of 16 year old female with the distinct clinical features of Noonan syndrome who has similar family history.
Field : Sosyal, Beşeri ve İdari Bilimler
Journal Type : Uluslararası
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