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Early-onset sutural cataract

ORPHA:98985Clinical subtypeAutosomal dominantInfancy, Neonatal

Ассоциированные гены (6)

BFSP2
beaded filament structural protein 2
Disease-causing germline mutation(s) in
OMIM: 603212
CRYBA1
crystallin beta A1
Disease-causing germline mutation(s) in
OMIM: 123610
CRYBB2
crystallin beta B2
Disease-causing germline mutation(s) in
OMIM: 123620
GJA8
gap junction protein alpha 8
Disease-causing germline mutation(s) in
OMIM: 600897
MIP
major intrinsic protein of lens fiber
Disease-causing germline mutation(s) in
OMIM: 154050
CRYGS
crystallin gamma S
Disease-causing germline mutation(s) in
OMIM: 123730

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы