Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Fuad ChowdhuryLei WangMohammed Al-RaqadDavid J AmorAlice BaxováŠárka BendováElisa BiaminoAlfredo BruscoOana CaluseriuNancy J CoxTawfiq FroukhMeral Gunay-AygunMiroslava HančárováDevon HaynesSolveig HeideGeorge HogansonTadashi KanameBoris KerenKenjiro KosakiKazuo KubotaJennifer M LemonsMaria A MagriñaPaul R MarkMarie T McDonaldSarah MontgomeryGina M MorleyHidenori OhnishiNobuhiko OkamotoDavid Rodriguez-BuriticaPatrick RumpZdeněk SedláčekKrista SchatzHaley StreffTomoko UeharaJagdeep S WaliaPatricia G WheelerAntje WiesenerChristiane ZweierKoichi KawakamiIngrid M WentzensenSeema R LalaniVictoria M SiuWeimin BiTuğçe B BalcıPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
These findings support PRR12 haploinsufficiency as a cause for a novel disorder with a wide clinical spectrum marked chiefly by neurodevelopmental and eye abnormalities.
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