Fetal akinesia deformation sequence syndrome associated with recessive TTN variants
Alkhunaizi E, Martin N, Jelin A, Rosner M, Bailey D, Steiner L, Lakhani S, Ji W, Katzman P, Forster K, Jarinova O, Shannon P, Chitayat D, Consortium C. Fetal akinesia deformation sequence syndrome associated with recessive TTN variants. American Journal Of Medical Genetics Part A 2022, 191: 760-769. PMID: 36495114, PMCID: PMC9928776, DOI: 10.1002/ajmg.a.63071.Peer-Reviewed Original ResearchConceptsArthrogryposis multiplex congenitaPathogenic variantsCompound heterozygous pathogenic variantsNext-generation gene sequencingHeterozygous pathogenic variantsSkeletal muscle abnormalitiesVariety of disordersFetal exposureClinical manifestationsPeripheral nervesSpinal cordLive birthsMultiplex congenitaHigh incidenceMuscle abnormalitiesRecurrence riskNeuromuscular junctionPhenotypic presentationSingle gene disordersTTN variantsConnective tissueRecessive variantsRecessive inheritanceObligate carriersMolecular diagnosis
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply