Condition: Cutis laxa, x-linked


rs151340631 in PGK1;ATP7A gene and Cutis laxa, x-linked PMID 17108763 2006 Functional copper transport explains neurologic sparing in occipital horn syndrome.

PMID 21667063 2012 The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression.

PMID 9246006 1997 A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family.

PMID 21487442 2011 Clinical utility gene card for: Menkes disease.

PMID 11431706 2001 A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease.

PMID 17108763 2006 We studied two brothers with typical occipital horn syndrome and used yeast complementation and timed growth assays, exploiting a Saccharomyces cerevisiae mutant strain, to assess in vitro N1304S copper transport.