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Entry Name Description Category Pathway Gene
H02611 Turnpenny-Fry syndrome ... developmental delay, facial dysmorphism, and skeletal abnormalities. It has been reported that mutations in PCGF2 cause this syndrome. PCGF2 plays a role in embryogenesis, cell proliferation, histone modification ... Congenital malformation PCGF2 [HSA:7703] [KO:K11460]
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