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J Pediatr Genet 2019; 08(03): 168-171
DOI: 10.1055/s-0039-1685171
Case Report
Georg Thieme Verlag KG Stuttgart · New York

A Novel Frameshift Homozygous Mutation in DHCR7 with a Known Missense Homozygous Mutation in the PROC in a 6-Year-Old Boy: A Child with Two Rare Genetic Diseases

1   Department of Medical Genetics, Faculty of Medicine, University of Harran, Sanliurfa, Turkey
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