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Progressive hypergonadotropic hypogonadism in an adolescent with 22q11.2 deletion syndrome

Abstract Background DiGeorge syndrome is a common microdeletion disorder caused by deletion in the 22q11.2 region. It typically presents with immune dysfunction, parathyroid hypoplasia, and congenital heart defects. Testis-specific serine/threonine kinases (TSSKs), involved in spermatogenesis, are l...

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Bibliografiske detaljer
Principais autores: Duygu Deligözoğlu, Gamze Mutlucan Köseoğlu, Esra Kılıç, Derya Tepe, Pınar Kocaay
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2025-10-01
Serier:BMC Endocrine Disorders
Fag:
Online adgang:https://doi.org/10.1186/s12902-025-02060-6
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