Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Spondyloepiphyseal dysplasia tarda is an x-linked recessive disorder caused by mutations of the TRAPPC2 gene. There are also known autosomal recessive and dominant forms whose genes have yet to be identified.
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Whyte MP et al. (1999) X-linked recessive spondyloepiphyseal dysplasia tarda. Clinical and radiographic evolution in a 6-generation kindred and review of the literature. 
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Gedeon AK et al. (1999) Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.
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| 3. |
Bar-Yosef U et al. (2004) X-linked spondyloepiphyseal dysplasia tarda: a novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations.
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Venditti R et al. (2012) Sedlin controls the ER export of procollagen by regulating the Sar1 cycle.
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Wynne-Davies R et al. (1985) The prevalence of skeletal dysplasias. An estimate of their minimum frequency and the number of patients requiring orthopaedic care.
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Szpiro-Tapia S et al. (1988) Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome.
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| 7. |
Iceton JA et al. (1986) Spondylo-epiphyseal dysplasia tarda. The X-linked variety in three brothers.
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| 8. |
Bannerman RM et al. (1971) X-linked spondyloepiphyseal dysplasia tarda: clinical and linkage data.
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| 9. |
Branford WA et al. (1982) Two first cousins with spondyloepiphyseal dysplasia tarda (X linked recessive form), one also with poikiloderma atrophicans vasculare progressing to lymphocytic lymphoma.
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| 10. |
Heuertz S et al. (1993) The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92.
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| 11. |
Bernard LE et al. (1996) Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia.
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| 12. |
MAROTEAUX P et al. (1957) [Not Available].
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| 13. |
None (1960) An unusual form of familial osteodystrophy.
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| 14. |
None (1964) SPONDYLOEPIPHYSIAL DYSPLASIA TARDA. HEREDITARY CHONDRODYSPLASIA WITH CHARACTERISTIC VERTEBRAL CONFIGURATION IN THE ADULT.
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