Novel TBX4 Variant Linked to Fatal Neonatal Lung Failure in Two Siblings
Two siblings with fatal neonatal respiratory failure carried a novel heterozygous TBX4 variant inherited from their unaffected father, a case ...
Tag: preimplantation genetic testing
Novel IDUA variant confirmed in MPS I as embryo screening yields healthy child
A novel IDUA variant, c.1379T>C (p.Leu460Pro), has been linked to MPS I for the first time, and preimplantation genetic testing ...
Maternal Balanced Translocation Behind Recurrent Fetal Holoprosencephaly in Case Report
A Chinese case report links nine consecutive failed pregnancies to a maternal balanced translocation between chromosomes 3 and 13, with ...
Terminal Breakpoints Shape Chromosome Segregation and Embryo Survival in Translocation Carriers
A study of 399 human embryos from reciprocal translocation carriers shows that terminal breakpoints drive 3:1 segregation and boost blastocyst ...
IVF and Pregnancy: Successes, Struggles, and Mysteries
In the ever-evolving field of reproductive medicine, the intersection of in vitro fertilization (IVF) and pregnancy outcomes has sparked considerable ...
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