Disease: Pena Shokeir syndrome Type 2
- A novel FOXP3 mutation causing fetal akinesia and recurrent male miscarriages
- Arthrogryposis multiplex congenita and Pena-Shokeir phenotype: challenge of prenatal diagnosis--report of 21 cases, antenatal findings and review
- Autistic-Like Traits in Pena-Shokeir Syndrome
- Fads and fallacies vs. facts in medico-dental thinking
- Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence
- Lethal multiple pterygium syndrome: three consecutive cases in one family
- Morphological study of the removed fetus after therapeutic abortion for echographic anomalies (apropos of 42 cases)
- Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita
- Pena-Shokeir phenotype with major CNS-malformations: clinicopathological report of two siblings
- Pena-Shokeir syndrome type I--combination of polyhydramnios and pulmonary hypoplasia in fetal akinesia
- Pena-shokeir type I syndrome with thymic and systemic lymphoid hyperplasia: report of an autopsy case
- Pre- and postnatal findings in Pena Shokeir I syndrome: case report and a review of the literature
- Prenatal diagnosis of Pena-Shokeir syndrome type 1
- Prenatal features of Pena-Shokeir sequence with atypical response to acoustic stimulation
- Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence
- Targeted carrier screening for four recessive disorders: high detection rate within a founder population
- The pena-shoker syndrome type I: clinicopathological report of a recurrent case
- Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients
- Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations