A Novel ADRA1A Missence Variant (c.939G > T) in Two Related Patients with Anejaculation: Case Report

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Atıf İçin Kopyala

Sharifi S., Dursun M., Palanduz S., Sahin A., Kadioglu A.

Indian Journal of Clinical Biochemistry, 2024 (ESCI)

• Yayın Türü: Makale / Tam Makale
• Basım Tarihi: 2024
• Doi Numarası: 10.1007/s12291-024-01210-2
• Dergi Adı: Indian Journal of Clinical Biochemistry
• Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, EMBASE
• İstanbul Üniversitesi Adresli: Evet

Özet

Disorders affecting ejaculation is only one of the many factors which may contribute to the pathogenesis of infertility. The genetic etiopathogenesis underlying anejaculation is not clear. It is important to elucidate the genetic etiology of anejaculation with respect to treatment options and genetic counseling. Herein we report two cases presenting anejaculation with familial ADRA1A missense variants. To our knowledge, this is the first report in the literature.