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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
Epidermolysis Bullosa, Junctional Herlitz Type Herlitz junctional epidermolysis Autosomal Recessive 18q11.2 Nonsense LAMA3 Arg650* Premature Termination 0/McGrath et al., 1996