- The First Korean Patient with Potocki-Shaffer Syndrome: A Rare Cause of Multiple Exostoses
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Sohn YB, Yim SY, Cho EH, Kim OH
- KMID: 2129654
- J Korean Med Sci.
- 2015 Feb;30(2):214-217.
- doi: 10.3346/jkms.2015.30.2.214
Potocki-Shaffer syndrome (PSS, OMIM #601224) is a rare contiguous gene deletion syndrome caused by haploinsufficiency of genes located on the 11p11.2p12. Affected individuals have a number of characteristic features including... -
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- Partial Tetrasomy of Chromosome 22q11.1 Resulting from a Supernumerary Isodicentric Marker Chromosome in a Boy with Cat-eye Syndrome
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Ko JM, Kim JB, Pai KS, Yun JN, Park SJ
- KMID: 1792906
- J Korean Med Sci.
- 2010 Dec;25(12):1798-1801.
- doi: 10.3346/jkms.2010.25.12.1798
The 22q11 region has been implicated in chromosomal rearrangements that result in altered gene dosage, leading to three different congenital malformation syndromes: DiGeorge syndrome, cat-eye syndrome (CES), and der(22) syndrome.... -
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