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Identification of an SRY-negative 46,XX infertility male with a heterozygous deletion downstream of SOX3 gene

BACKGROUND: A male individual with a karyotype of 46,XX is very rare. We explored the genetic aetiology of an infertility male with a kayrotype of 46,XX and SRY negative. METHODS: The peripheral blood sample was collected from the patient and subjected to a few genetic testing, including chromosomal...

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Detalles Bibliográficos
Autores principales: Qin, Shengfang, Wang, Xueyan, Wang, Jin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8842887/
https://www.ncbi.nlm.nih.gov/pubmed/35164824
http://dx.doi.org/10.1186/s13039-022-00580-7