• <em>MED12</em>-Related (Neuro)Developmental Disorders: A Question of Causality
• A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia
• A likely pathogenic ACTG1 variant in a child showing partial phenotypic overlap with Baraitser-Winter syndrome
• A novel nonsense variant in <em>MED12</em> associated with malformations in a female fetus
• Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects
• Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study
• Catatonic syndrome and Baraitser Winter syndrome: Case report and review of the literature
• Challenging Anaesthesia Management of a Patient with Fryns Syndrome: A Case Report
• Congenital diaphragmatic hernia and early lethality in PIGL-related disorder
• Diaphragmatic Hernia as a Prenatal Feature of Glycosylphosphatidylinositol Biosynthesis Defects and the Overlap With Fryns Syndrome - Literature Review
• Eye and ocular adnexa manifestations of <em>MED12</em>-related disorders
• Frameshift mutation S368fs in the gene encoding cytoskeletal β-actin leads to ACTB-associated syndromic thrombocytopenia by impairing actin dynamics
• MED12 Mutation in Two Families with X-Linked Ohdo Syndrome
• Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes
• Obsessive-compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome
• PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation
• Prenatal diagnosis of familial recessive PIGN mutation associated with multiple anomalies: A case report
• Prenatal Diagnosis of Fryns Syndrome through Identification of Two Novel Splice Variants in the PIGN Gene-A Case Series
• Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW-related prenatal findings
• Syndromic congenital diaphragmatic hernia: Current incidence and outcome. Analysis from the congenital diaphragmatic hernia study group registry
• When Fryn met Edward: Two rare syndromes in a single patient