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hrp0092p3-217 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Clinical and Molecular Spectrum of Patients with Disorders of Sex Development: A Single Center Experience

Özen Samim , Ata Aysun , Onay Hüseyin , Uzun Selin , Gökşen Damla , Özkinay Ferda , Burcu Özbaran Nazli , Ulman İbrahim , Darcan Şükran

Introduction: Disorders of sex development (DSD) constitute a group of congenital conditions that affect urogenital differentiation and are associated with chromosomal, gonadal and phenotypic sex abnormalities.Objective: To evaluate clinical and genetic features of childhood DSD cases.Materials and Methods: DSD patients followed up between the years of 1981-2018 were evaluated in t...

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hrp0092rfc6.4 | Bone, Growth Plate and Mineral Metabolism Session 2 | ESPE2019

Targeted Molecular Genetic Diagnosis by Next Generation Sequence Analysis Method and Investigation of Responsible Candidate Genes in Patients with Osteogenesis Imperfecta

Özen Samim , Gökşen Damla , Işik Esra , Gürkan Ferda Evin , Onay Hüseyin , Akgün Bilçag , Ata Aysun , Atik Tahir , Özkinay Ferda , Darcan Şükran , Çogulu Özgür

Introduction: The aim of this study was to investigate the molecular genetic etiology and to determine the relationship between genotype and phenotype with targeted next-generation sequence (NGS)analysis.Method: Patients with a clinical diagnosis of OI were included in the study. Initially, mutations in COL1A1 and COL1A2 genes which are known to be most responsible for OI were investigated. In the second step, a targeted...

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ESPE Abstracts

Clinical and Molecular Spectrum of Patients with Disorders of Sex Development: A Single Center Experience

Targeted Molecular Genetic Diagnosis by Next Generation Sequence Analysis Method and Investigation of Responsible Candidate Genes in Patients with Osteogenesis Imperfecta

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