sameAs
P2293
Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy.Bietti crystalline corneoretinal dystrophy associated with CYP4V2 gene mutations.Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy.Identification of CYP4V2 mutation in 36 Chinese families with Bietti crystalline corneoretinal dystrophy.Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy.Novel CYP4V2 mutations associated with Bietti crystalline corneoretinal dystrophy in Chinese patients.In vivo confocal microscopic findings of 2 patients with Bietti crystalline corneoretinal dystrophy.Crystal deposits on the lens capsules in Bietti crystalline corneoretinal dystrophy associated with a mutation in the CYP4V2 gene.Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy[Progress in the studies of molecular genetics in Bietti crystalline corneoretinal dystrophy]
P921
Q24533449-46AE7051-9B41-4E1F-ACCA-BE0A04BDC45AQ34453289-2801D5E0-AAAB-4715-AA28-368DF34C6727Q34605707-4C5D42AC-89B4-48B2-B597-31DEF4E63017Q35448626-7CDCE0FC-D91A-4D57-92A6-32EA8666B89DQ38895908-EE30B6BD-20DD-4F82-9DEA-BECC199F7961Q40397099-A69CBF1B-FB1A-42C4-9589-4BD0D9652E17Q41994801-6284BE84-D646-413F-B98D-5B011651D5E9Q43124506-016DBBAE-6F1D-4E19-9550-92919B2408D8Q45976613-CA9F6F05-1E6A-4907-9C0C-B83D712BE807Q84084179-C534DB5B-513E-42AC-B0D1-623FE2B79200Q85866239-E16E8426-6084-4F9E-B4C4-5AEEA5BE8D86
P921
description
Human disease
@en
Krankheit
@de
مرض يصيب الإنسان
@ar
name
Bietti crystalline corneoretinal dystrophy
@en
Bietti-Kristalldystrophie
@de
Distrofia cristalina de Bietti
@es
maladie de Bietti
@fr
Кристаллическая дистрофия Bietti
@ru
type
label
Bietti crystalline corneoretinal dystrophy
@en
Bietti-Kristalldystrophie
@de
Distrofia cristalina de Bietti
@es
maladie de Bietti
@fr
Кристаллическая дистрофия Bietti
@ru
altLabel
BCD
@en
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
@en
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY; BCD
@en
Bietti Crystalline Dystrophy
@en
Bietti Tapetoretinal Degeneration With Marginal Corneal Dystrophy
@en
Bietti crystalline retinopathy
@en
Bietti's crystalline dystrophy
@en
dystrophie cristalline de Bietti
@fr
prefLabel
Bietti crystalline corneoretinal dystrophy
@en
Bietti-Kristalldystrophie
@de
Distrofia cristalina de Bietti
@es
maladie de Bietti
@fr
Кристаллическая дистрофия Bietti
@ru
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P5270
MONDO:0008865
P6366
2776149747
P699
DOID:0050664
P7464
bietti-crystalline-dystrophy