Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.
Rebekah JoblingDimitri James StavropoulosChristian R MarshallCheryl CytrynbaumMichelle M AxfordVanessa LonderoSharon MoalemJennifer OrrFrancis RossignolFatima Daniela LopesJulie GauthierNathalie AlosRosemarie RuppsMargaret McKinnonShelin AdamMalgorzata J M NowaczykSusan WalkerStephen W SchererChristina NassifFadi F HamdanCheri L DealJean-François SoucyRosanna WeksbergPatrick MacleodJacques L MichaudDavid ChitayatPublished in: Journal of medical genetics (2018)
Chitayat-Hall syndrome is caused by pathogenic variants in MAGEL2 and shares a common aetiology with the recently described Schaaf-Yang syndrome. The phenotype of MAGEL2-related disorders is expanded to include growth hormone deficiency as an important and treatable complication.