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Journal Abstract Search

192 related items for PubMed ID: 18434272

  • 1. A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay.
    Thiel CT, Dörr HG, Trautmann U, Hoyer J, Hofmann K, Kraus C, Ekici AB, Reis A, Rauch A.
    Eur J Med Genet; 2008; 51(4):362-7. PubMed ID: 18434272
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  • 5. New syndrome: mother and son with hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies.
    Seaver LH, Cassidy SB.
    Am J Med Genet; 1991 Dec 15; 41(4):405-9. PubMed ID: 1776627
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  • 6. Teebi hypertelorism syndrome.
    Koenig R.
    Clin Dysmorphol; 2003 Jul 15; 12(3):187-9. PubMed ID: 14564158
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  • 8. A report of a patient with duplication of 7p13-->pter and deletion of 2p23-->pter due to a maternal 2p;7p translocation.
    Türköver BB, Sayar C, Toksoy G, Elçioğlu N.
    Turk J Pediatr; 2009 Jul 15; 51(2):174-9. PubMed ID: 19480332
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