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

Document Type

Journal

Author

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

Source

EUROPEAN JOURNAL OF MEDICAL GENETICS; JUL 2020, 63 7, p103939 7p.

Subject

Language

English

ISSN

18780849

Online Access

Full Text (ScienceDirect 종량제) Full Text (Clinical Key) Web of Science JCR 저널정보 Scopus Find it@PNU

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