- De Novo San Luis Valley Syndrome-like der(8) Chromosome With a Concomitant dup(8p22) in a Mexican Girl
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Sánchez-Casillas AL, Rivera H, Castro-MartÃnez AG, GarcÃa-Ortiz JE, Córdova-Fletes C, Mendoza-Pérez P
- KMID: 2373623
- Ann Lab Med.
- 2017 Jan;37(1):88-91.
- doi: 10.3343/alm.2017.37.1.88
No abstract available. -
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- 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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