A clinical scoring system for congenital contractural arachnodactyly.
Ilse MeerschautShana De ConinckWouter SteyaertAngela BarnicoatAllan BayatFrancesco BenedicentiSiren BerlandEdward M BlairJeroen BreckpotAnna de BurcaAnne DestréeSixto García-MiñaúrAndrew J GreenBernadette C HannaKathelijn KeymolenMarije KoopmansDamien LedererSally Ann LynchCheryl LongmanSally Ann LynchAlison M MaleFiona McKenzieIsabelle MigeotteErcan MihciBanu NurFlorence PetitJuliette PiardFrank S PlasschaertAnita RauchPascale RibaïIratxe Salcedo PachecoFranco StanzialIrene Stolte-DijkstraIrene ValenzuelaVinod VarghesePradeep C VasudevanEmma L WakelingCarina Wallgren-PetterssonPaul CouckeAnne De PaepeDaniël De WolfSofie SymoensBert CallewaertPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
Our clinical score is helpful for clinical guidance for patients suspected to have CCA, and provides a quantitative tool for phenotyping in research settings.