Total: 1 |
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PMID (PMCID) | ||
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23894102 |
FEMALE | Adult |
Pre- and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with San Luis Valley syndrome. | ||
Vera-Carbonell A, Lopez-Gonzalez V, Bafalliu JA, Pinero-Fernandez J, Susmozas J, Sorli M, Lopez-Perez R, Fernandez A, Guillen-Navarro E, Lopez-Exposito I. Am J Med Genet A. 2013;161A(9):2369-75. |
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San Luis Valley syndrome, which is due to a recombinant chromosome 8 (SLV Rec8) found in Hispanic individuals from Southwestern United States, is a well-established syndrome associated with intellectual disabilities and, frequently, severe cardiac anomalies. |