Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects
Göknur Haliloğlu(Hacettepe University Hospital), Sebahattin Çırak(University of Cologne), Susanne Motameny(University of Cologne), Çağrı Mesut Temuçin(Hacettepe University), Nalan Küçükşahin(Hacettepe University), Peter Nürnberg(University of Cologne), Üstün Aydıngöz(Saint Louis University Hospital), Haluk Topaloğlu(Yeditepe University), Beril Talim(Evangelisches Krankenhaus Bielefeld), Matthias Pergande(University Hospital Cologne), Kerstin Becker(University of Cologne)
Cited by 79
Related Papers
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
|Orphanet Journal of Rare Diseases|2014|713
Classification of patients with sepsis according to blood genomic endotype: a prospective cohort study
|The Lancet Respiratory Medicine|2017|645