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Phenotype and natural history in Marshall-Smith syndrome.
Download from onlinelibrary.wiley.comClinical variability of familial tumoral calcinosis caused by novelGALNT3mutations
Download from www.ncbi.nlm.nih.govMutation update for theCSB/ERCC6andCSA/ERCC8genes involved in Cockayne syndrome
Download from onlinelibrary.wiley.comStüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity.
UploadOBSL1mutations in 3-M syndrome are associated with a modulation ofIGFBP2andIGFBP5expression levels
UploadIdentification of CANT1 Mutations in Desbuquois Dysplasia
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