Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.
Marie MorimotoElena-Raluca NicoliChulaluck KuptanonJoseph C RoneyJenny Serra-VinardellPrashant SharmaDavid R AdamsJohn I GallinSteven M HollandSergio D RosenzweigJose BarbotCarla CicconeMarjan HuizingCamilo ToroWilliam A GahlWendy J IntroneMay Christine V MalicdanPublished in: Journal of medical genetics (2023)
variants and improvements in variant classification will provide earlier diagnoses and improved care to individuals with CHS.