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DNA ligase IV deficiency identified in a patient with hypergonadotropic hypogonadism: a case report

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Year: 2025
Type: article
Study design: Case Report
Source: Journal of Pediatric Endocrinology and Metabolism
DOI: 10.1515/jpem-2024-0510
Authors: Deniz Yasar, Abdullah Sezer, Caner Aytekin, Gülin Karacan Küçükali, Beyhan Özkaya Dönmez, Aslıhan Araslı Yılmaz, İclal Okur, Behiye Sarıkaya Özdemir, Erdal Kurnaz, Melikşah Keskin, Şenay Savaş Erdeve
Institutions: Ankara Etlik City Hospital, Dr Sami Ulus Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi
Language: English

Topic: Genomics and Rare Diseases
Subfield: Genetics
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: closed
OpenAlex ID: W4407603840
FWCI:
Cites: 15
Cited by:
Related to: 10
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