Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.

Anushree AcharyaHaluk KavusPatrick DunnAbdul NasirLeandra FolkKara WithrowIngrid M WentzensenMaura R Z RuzhnikovCamille FallotThomas SmolMélanie RamaKathleen BrownSandra WhalenAlban ZieglerMagali BarthAnna ChasseventConstance Smith-HicksAlexandra AfenjarThomas CourtinSolveig HeideEsperanza Font-MontgomeryCaleb HeidJ Austin HammDonald R LoveFarouq ThabetVinod K MisraMitch CunninghamSuzanne M LealIrma JarvelaElizabeth A NormandFanggeng ZouMayada HelalBoris KerenErin TortiWendy K ChungIsabelle Schrauwen

Published in: Journal of medical genetics (2021)

We provide a comprehensive review and expansion of the genotypic and phenotypic spectrum of HECW2 disorders, aiding future molecular and clinical diagnosis and management.

Keyphrases

current status
single molecule