Patient with an Xp21 contiguous gene deletion syndrome in association with agenesis of the corpus callosum
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference27 articles.
1. Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28
2. Origins of recognizable syndromes: Etiologic and pathogenetic mechanisms and the process of syndrome delineation
3. Tuberous Sclerosis, Agenesis of the Corpus Callosum and Lennox-Gastaut Syndrome: Mere Chance or a New Syndrome?
4. L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?
5. : (1970): Triglyceride und glycerin. In (ed): “Methoden der enzymatischen Analyse”, 2nd ed. Weinheim: Werlag Chemie, pp 1765–1770.
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4. Identification of genomic loci contributing to agenesis of the corpus callosum;American Journal of Medical Genetics Part A;2010-08-03
5. Family-based association tests for ordinal traits adjusting for covariates;Genetic Epidemiology;2006
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