Platyspondylia
National Institutes of Health
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The association of a spondyloepiphyseal dysplasia tarda (SED-T) with the nephrotic syndrome (NS) was found in three siblings…
The spondylometaphyseal dysplasias are a group of chondrodystrophies characterised by irregularities of long bones' metaphyses…
GM1 gangliosidosis is usually a pediatric disease caused by hereditary acid P-galactosidase deficiency. There have been a few…