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Novel homozygous variant of CCIN causes male infertility owing to the abnormal sperm head with a nuclear subsidence phenotype

期刊

CLINICAL GENETICS
卷 103, 期 4, 页码 495-497

出版社

WILEY
DOI: 10.1111/cge.14281

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asthenoteratozoospermia; CCIN; ICSI; male infertility; WES

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This study investigated the characteristics of spermatozoa in patients with asthenoteratozoospermia and performed pedigree and Sanger sequencing analysis on the family, revealing the effect of a missense variant in the CCIN gene.
(A) Characteristics of spermatozoa in asthenoteratozoospermia affected man. (B) Pedigree and Sanger sequencing analysis of the family. (C) The effect of the missense variant in the CCIN gene.

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