The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Karin WeissHayley P LazarAlina KurolapAriel F MartinezTamar PapernaLior CohenMarie F SmelandSandra WhalenSolveig HeideBoris KerenPauline TerhalMelita IrvingMotoki TakakuJohn D RobertsRobert M PetrovichSamantha A Schrier VerganoAmy KenneyHanne HoveElizabeth DeCheneShane C QuinonezEstelle ColinAlban ZieglerMelissa RumpleMahim JainDanielle C MonteilElizabeth R RoederKimberly NugentArie van HaeringenMichael GambelloAvni SantaniLīvija MedneBryan KrockCara M SkrabanElaine H ZackaiHolly A DubbsThomas SmolJamal GhoumidMichael J ParkerMichael WrightPeter D TurnpennyJill Clayton-SmithKay MetcalfeHitoshi KurumizakaBruce D GelbHagit Baris FeldmanPhilippe M CampeauMaximilian MuenkePaul A WadeKatherine LachlanPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
The CHD4-related syndrome is a multisystemic neurodevelopmental disorder. Missense substitutions in different protein domains alter CHD4 function in a variant-specific manner, but result in a similar phenotype in humans.