Disease: Fetal akinesia syndrome- X-linked
- Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita
- IPEX Syndrome
- Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies
- Prenatal diagnosis of a new syndrome: holoprosencephaly with hypokinesia
- Single-channel properties of skeletal muscle ryanodine receptor pore Δ<sup>4923</sup>FF<sup>4924</sup> in two brothers with a lethal form of fetal akinesia