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14 results
  1. 22q11.2 Deletion Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1523
    ... microcephaly, and cryptorchidism [ Lichtner et al 2000 ]. Deletion ... vertebral, renal, and limb anomalies are present). VATER association is a diagnosis of ...
  2. Emanuel Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1263
    ... Failure to thrive Preauricular tag or pit Ear anomalies Cleft or ... of 22q10-22q11 and duplication of 11q23-qter on a supernumerary derivative chromosome 22 [der( ...
  3. Chromosome 11: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/chromosome/11
    ... region are associated with intellectual disability and craniofacial anomalies. Am J Hum ... on 22q11 and 11q23 as the etiology for the recurrent constitutional t( ...
  4. Late Effects of Treatment for Childhood Cancer (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65832
    ... between exons 5 and 11 of the band 11q23 and fuse KMT2A with a partner gene.[ 17 ] ... is associated with balanced translocations involving chromosome bands 11q23 or 21q22.[ 18 ] (Refer to the Therapy-Related ...
  5. Loeys-Dietz Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1133
    ... Devereux RB, Basson CT. Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, ...
  6. Nephronophthisis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK368475
    ... protein 19 WDR19 @ LOVD WDR19 WDR19 NPHP15 CEP164 11q23 ​.3 Centrosomal protein of 164 kDa CEP164 CEP164 ... NPH [ Olbrich et al 2003 ]. Brain and cardiac anomalies have been associated with biallelic nonsense pathogenic variants [ ...
  7. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... disorder</synonym><synonym >11q- deletion syndrome</synonym><synonym >11q23 deletion disorder</synonym><synonym >Jacobsen thrombocytopenia</synonym></synonym- ...
  8. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... name >11q- deletion syndrome</other_name><other_name >11q23 deletion disorder</other_name><other_name >Jacobsen thrombocytopenia</ ...
  9. Excluded Studies - Interventions Targeting Sensory Challenges in Children With Autism Spectrum Disorder—An Update - ... 
    https://www.ncbi.nlm.nih.gov/books/NBK448045
    ... Clinical and molecular evaluations of siblings with “pure” 11q23.3-qter trisomy or reciprocal monosomy due to ... MJ, Mahon LW, et al. Short stature, digit anomalies and dysmorphic facial features are associated with the ...
  10. Heritable Thoracic Aortic Disease Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1120
    ... Devereux RB, Basson CT. Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, ...
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