Defining the clinical phenotype of Saul-Wilson syndrome.
Carlos R FerreiraWadih M ZeinLaryssa A HurynAndrea MerkerSeth I BergerWilliam G WilsonGeorge E TillerLynne A WolfeMelissa MeridethDaniel R CarvalhoAngela L DukerHeiko BratkeMarte Gjøl HaugLuis RohenaHanne B HoveZhi-Jie XiaBobby G NgHudson H FreezeMelissa GabrielAlvaro H Serrano RussiLauren BrickMariya KozenkoDawn L EarlEmma ThamGen NishimuraJohn A PhillipsWilliam A GahlRizwan HamidAndrew P JacksonGiedre GrigelionieneMichael B BoberPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
Saul-Wilson syndrome presents a remarkably uniform phenotype, and the comprehensive description of our cohort allows for improved understanding of the long-term morbidity of the condition, establishment of follow-up recommendations for affected individuals, and documentation of the natural history into adulthood for comparison with treated patients, when therapeutics become available.