Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in PGAP3
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Hyperphosphatasia with mental retardation syndrome is a heterogeneous genetic condition. Two siblings aged 5 years and 3 years were evaluated for global development delay and facial dysmorphism. A novel missense variant, c.851A>G (p.H284R, NM_033419.3), in PGA... ...
