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Article

A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes.

European journal of medical genetics - 1 Mar 2021

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

Abstract excerpt

INTRODUCTION: Disorders of sex development (DSD) constitutes a group of congenital conditions that affect urogenital differentiation and are associated with chromosomal, gonadal and phenotypic sex abnormalities. OBJECTIVE: To evaluate the clinical and genetic features of childhood DSD cases. MATERIALS AND METHODS: DSD patients followed up between the years of 2002-2018 were evaluated in terms of their complaints,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33516834
DOI: 10.1016/j.ejmg.2021.104154

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