Sandbox Reserved 1103: Difference between revisions
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=== Revesz syndrome === | === Revesz syndrome === | ||
Revesz syndrome is characterised by bone marrow hypoplasia, growth retardation, exudative retinopathy, severe aplastic anemia <ref>PMID: 17901676 </ref>. Revesz syndrome also appears to be part of the DKC disease spectrum. Patients with Revesz syndrome have presented with heterozygous mutations in TINF2 gene which is located on chromosome 14q12 <ref>PMID: 18252230 </ref>. | Revesz syndrome is characterised by bone marrow hypoplasia, nail dystrophy, growth retardation, exudative retinopathy, severe aplastic anemia <ref>PMID: 17901676 </ref>. Revesz syndrome also appears to be part of the DKC disease spectrum. Patients with Revesz syndrome have presented with heterozygous mutations in TINF2 gene which is located on chromosome 14q12 <ref>PMID: 18252230 </ref>. | ||
== References == | == References == | ||
