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Journal Abstract Search

218 related items for PubMed ID: 20683993

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  • 2. Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect.
    Bunyan DJ, Baker KR, Harvey JF, Thomas NS.
    Am J Med Genet A; 2013 Jun; 161A(6):1329-38. PubMed ID: 23636926
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  • 8. Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri-Weill dyschondrosteosis (LWD).
    Barroso E, Benito-Sanz S, Belinchón A, Yuste-Checa P, Gracia R, Aragones A, Campos-Barros A, Heath KE.
    Eur J Med Genet; 2010 Jun; 53(4):204-7. PubMed ID: 20412871
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  • 13. PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands.
    Benito-Sanz S, del Blanco DG, Aza-Carmona M, Magano LF, Lapunzina P, Argente J, Campos-Barros A, Heath KE.
    Hum Mutat; 2006 Oct; 27(10):1062. PubMed ID: 16941489
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  • 18. Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).
    Benito-Sanz S, Barroso E, Heine-Suñer D, Hisado-Oliva A, Romanelli V, Rosell J, Aragones A, Caimari M, Argente J, Ross JL, Zinn AR, Gracia R, Lapunzina P, Campos-Barros A, Heath KE.
    J Clin Endocrinol Metab; 2011 Feb; 96(2):E404-12. PubMed ID: 21147883
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