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Article

First reported case of Steel syndrome in the European population: A novel homozygous mutation in COL27A1 and review of the literature.

European journal of medical genetics - 1 Jul 2020

Evie Kritioti, Athina Theodosiou, Nayia Nicolaou, Angelos Alexandrou, Ioannis Papaevripidou, Elisavet Efstathiou, Violetta Christophidou-Anastasiadou, Carolina Sismani, Tanteles George A

Abstract excerpt

Steel syndrome is an autosomal recessive disorder that primarily affects the skeletal system causing a variety of manifestations. Sixteen individuals with Steel syndrome, mainly Puerto Ricans (11/16), were previously reported to carry bi-allelic mutations in the COL27A1 gene. Here, we present the first patient with Steel syndrome in Europe and the sixth non-Puerto Rican carrying a novel homozygous mutation in...

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PMID: 32360765
DOI: 10.1016/j.ejmg.2020.103939

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