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The Dysequilibrium Syndrome: a Study of the Etiology and Pathogenesis

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Journal Clin Genet
Specialty Genetics
Date 1985 Feb 1
PMID 3978855
Citations 1
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Abstract

The optimality of prenatal and perinatal conditions, serum levels of radioreceptor-assayable somatomedins and activity of catechol-0-methyltransferase in erythrocytes were examined in 13 dysequilibrium (DES) patients. No differences from normal controls were found. As a group, the DES patients were not more exposed to non-optimal prenatal and perinatal events than healthy controls. No association between DES and somatomedin levels or between DES and catechol-0-methyltransferase activity was demonstrated.

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A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion.

Ali B, Silhavy J, Gleeson M, Gleeson J, Al-Gazali L BMC Med Genet. 2012; 13:80.

PMID: 22973972 PMC: 3495048. DOI: 10.1186/1471-2350-13-80.