Associated Papers
High-level mosaic trisomy 9 at amniocentesis in a pregnancy associated with intrauterine growth restriction, a positive non-invasive prenatal testing for trisomy 9, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 9 cell line, a heterozygous missense mutation of the PIEZO2 gene and an adverse fetal outcome.
Chen CP et al.
Taiwanese Journal of Obstetrics & Gynecology, 2025
Compound heterozygous variants in MYBPC1 lead to severe distal arthrogryposis type-1 manifestations.
Iyer A et al.
Gene, 2024
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