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Spondylometaphyseal Dysplasia with Corneal Dystrophy
A spondylometaphyseal dysplasia characterized by spondylometaphyseal dysplasia and corneal dystrophy that is caused by homozygous or compound heterozygous mutation in the PLCB3 gene on chromosome 11q13.1.
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Overview
A spondylometaphyseal dysplasia characterized by spondylometaphyseal dysplasia and corneal dystrophy that is caused by homozygous or compound heterozygous mutation in the PLCB3 gene on chromosome 11q13.1.
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