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- [4] Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)Nature Genetics, 2003, 35 : 318 - 321Koki YamadaCaroline AndrewsWai-Man ChanCraig A McKeownAdriano MagliTeresa de BerardinisAnat LoewensteinMoshe LazarMichael O'KeefeRobert LetsonArnold LondonMark RuttumNaomichi MatsumotoNakamichi SaitoLisa MorrisMonte Del MonteRoger H JohnsonEiichiro UyamaWillem A HoutmanBerendina de VriesThomas J CarlowBlaine L HartNicolas KrawieckiJohn ShoffnerMarlene C VogelJames KatowitzScott M GoldsteinAlex V LevinEmin C SenerBanu T OzturkA Nurten AkarsuMichael C BrodskyFrank HanischRobert P CruseAlina A ZubcovRichard M RobbPeter RoggenkäemperIrene GottlobLionel KowalRavi BattuElias I TraboulsiPiergiorgio FranceschiniAnna NewlinJoseph L DemerElizabeth C Engle
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- [6] A Novel De Novo KIF21A Variant in a Patient With Congenital Fibrosis of the Extraocular Muscles With a Syndromic CFEOM PhenotypeJOURNAL OF NEURO-OPHTHALMOLOGY, 2021, 41 (01) : E85 - E88Soliani, LucaSpagnoli, CarlottaSalerno, Grazia G.Mehine, MiikaRizzi, SusannaFrattini, DanieleKoskenvuo, JuhaFusco, Carlo
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- [9] Recurrent Mutation of the KIF21A Gene in Japanese Patients with Congenital Fibrosis of the Extraocular MusclesJapanese Journal of Ophthalmology, 2005, 49 : 443 - 447Satoko ShimizuAkira OkinagaToshio Maruo
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