Article

Mosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutant<i>CEP192</i>

2023-07-26

Abstract excerpt

In the present study, we report on mosaic variegated aneuploidy (MVA) syndrome with tetraploidy and predisposition to infertility in a family. Sequencing analysis identified that the CEP192 biallelic variants (c.1912C>T/p.H638Y and c.5750A>G/p.N1917S) segregated with microcephaly, short stature, limb–extremity dysplasia, and reduced testicular size, while CEP192 monoallelic variants segregated with infertility and...

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Literature Corpus work: 36b3e753-bebb-56c7-9b68-62c53caa15c4
DOI: 10.1101/2023.07.22.23292907

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