A case of Roberts syndrome: its ultrasonographic characteristics and genetic diagnosis

Objective: Roberts syndrome is a very rare genetic disease, and it has an autosomal recessive inheritance pattern. It develops as a result of the mutation in ESCO2 gene located in the 8th chromosome. In our study, we aimed to present a case which was found to have Roberts syndrome coexisting with mu...

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Main Authors: Ayaz, Reyhan (Author), Göktaş, Emine (Author), Balasar, Mine (Author)
Format: Knjiga
Izdano: Perinatal Medicine Foundation, 2020-12-01T00:00:00Z.
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