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Details Of NON Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Tooth Agenesis,Oligodontia (LTBP3) oligodontia and short stature Autosomal Recessive 11p12?q13.3 Nonsense LTBP3 2322C>G Tyr774* Premature Termination 0/Noor et al., 2009