|About this overview [Show]
|This detailed view shows all details of the selected patient, including all variants reported in this patient. At the bottom of the page, all variants reported in this patient are listed, with the one you are looking at in bold. The link to the UCSC Genome Browser will show the browser zoomed in to the location of the selected variant.|
|Patient data (#0000852)
||Faiyaz-Ul-Haque et al., 2004|
||The parents of this patient are first cousins. This patient's paternal uncle is also affected by Progeroid EDS and harbours the same two variants.|
This patient was subsequently described by Walker et al., 2004 and by Seidler et al., 2006.
||c.808C>T (View in UCSC Genome Browser, Ensembl)|