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  1. Koolen-de Vries Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK24676
    ... V, Andrieux J. Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation. Eur ... JA, Eichler EE. Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing. Am J Hum Genet. ...
  2. Koolen-de Vries syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/koolen-de-vries-syndrome
    ... Names for This Condition 17q21.31 deletion syndrome 17q21.31 microdeletion syndrome Chromosome 17q21.31 microdeletion syndrome KANSL1-related intellectual ...
  3. Chromosome 17: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/chromosome/17
    ... in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet. 2012 Apr 29;44(6):639- ... Brunner HG, de Vries BB. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet. ...
  4. KANSL1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/kansl1
    ... JA, Eichler EE. Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing. Am J Hum Genet. ... in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet. 2012 Apr 29;44(6):639- ...
  5. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... list ><synonym >17q21.31 deletion syndrome</synonym><synonym >17q21.31 microdeletion syndrome</synonym><synonym >Chromosome 17q21.31 microdeletion syndrome</synonym>< ...
  6. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... 17q21.31 deletion syndrome</other_name><other_name >17q21.31 microdeletion syndrome</other_name><other_name >Chromosome 17q21.31 microdeletion ...
  7. Genetic Conditions: 0-9 
    https://medlineplus.gov/genetics/condition-0
    ... 31 deletion syndrome, see Koolen-de Vries syndrome 17q21.31 microdeletion syndrome, see Koolen-de Vries syndrome 17β-hydroxysteroid dehydrogenase ...
  8. Genetic Conditions: C 
    https://medlineplus.gov/genetics/condition-c
    ... Chromosome 17q12 duplication syndrome, see 17q12 duplication Chromosome 17q21.31 microdeletion syndrome, see Koolen-de Vries syndrome Chromosome 18 deletion ...
  9. Genetic Conditions: M 
    https://medlineplus.gov/genetics/condition-m
    ... overload, see Hypochromic microcytic anemia with iron overload Microdeletion 17q21.31 syndrome, see Koolen-de Vries syndrome Microdeletion 3q29 syndrome, ...
  10. WAC-Related Intellectual Disability - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK465012
    ... loss of UBE3A function. 8. KANSL1 -related ID syndrome is, on most occasions, readily diagnosed by detection of the typical 17q21.31 microdeletion on chromosomal microarray . Note: The 17q21.31 microdeletion ...
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