The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
Christian Patrick SchaafDaniëlle G M BoschMegan T ChoJill A RosenfeldJill Anne RosenfeldRichard Alan LewisRichard Alan LewisParul JayakarKatelyn PayneLaurence WalshTimothy MossAllison SchreiberCheri SchoonveldKristin G MonaghanFrances ElmslieGanka DouglasF Nienke BoonstraFrancisca MillanFrans P M CremersDianalee McKnightGabriele RichardJane JuusolaFran KendallKeri RamseyKwame Anyane-YeboaElfrida MalkinWendy K ChungWendy K ChungDmitriy M NiyazovMagdalena WalkiewiczVivekanand VeluchamyChumei LiFuki M HisamaBert B A de VriesChristian SchaafPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)
BBSOAS encompasses a broad range of clinical phenotypes. Functional studies help determine the severity of novel NR2F1 variants. Some genotype-phenotype correlations seem to exist, with missense mutations in the DNA-binding domain causing the most severe phenotypes.Genet Med 18 11, 1143-1150.