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First documented case of Myhre syndrome in Romania: A case report

10 Mar 2022

Abstract excerpt

Myhre syndrome is a rare genetic autosomal dominant connective tissue disorder, characterized by developmental delay, characteristic facial features, various bone and joint abnormalities, distinctive cardiovascular, ophthalmological and ear, nose and throat (ENT) manifestations, in association with mild to moderate intellectual disability and autism or autism spectrum disorder‑like behaviour. The diagnosis of...

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PMID: 35386616
DOI: 10.3892/etm.2022.11252

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