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Lethal Congenital Contracture Syndrome
  Health > Conditions and Diseases > Neurological Disorders > Congenital Anomalies > Lethal Congenital Contracture Syndrome   Go to Directory Home  

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  Online Mendelian Inheritance in Man http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253310
Description of the state of knowledge of Lethal Congenital Contracture Syndrome (Herva Syndrome), and references thereto.
  Assignment of the Disease Locus for LCCS to a Restricted Region of Chromosome 9q34 http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=9683599
Full text of article by Mäkelä-Bengs et al that describes the location of the Herva-Syndrome-causing defect using a genome scan using five affected individuals.

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