Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans
Mohammed Zain Seidahmed, Adila Al‐Kindi, Hessa S. Alsaif, Abeer M. Miqdad, Nasser Alabbad, Abdallah Alfifi, Omer Bashir Abdelbasit, Khalid Al-Hussein, Abdulmohsen Alsamadi, Niema Ibrahim, Amna Al‐Futaisi, Almundher Al‐Maawali, Fowzan S. Alkuraya
Topics & Concepts
ArthrogryposisArthrogryposis multiplex congenitaBiologyPhenotypeMicrocephalyExome sequencingSpinal muscular atrophyGeneticsCorpus callosumGenetic heterogeneityPathologyGeneAnatomyMedicineNeurogenetic and Muscular Disorders ResearchRNA modifications and cancerRNA Interference and Gene Delivery