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. 2001 Jun;38(6):409–411. doi: 10.1136/jmg.38.6.409

A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree

E Grunebaum, E Arpaia, J MacKenzie, J Fitzpatrick, P Ray, C Roifman

PMCID: PMC1734897 PMID: 11424925

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