| 1 | DCS, SHOX, SHSIX
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| Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).
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| Benito-Sanz S, Barroso E, Heine-Suņer 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.
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| J Clin Endocrinol Metab 96(2):E404-12. Epub 2010 Dec 8.
2011
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| 2 | LMD, LWD, SHOX, SHSIX, TS
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| Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency.
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| Rappold G, Blum WF, Shavrikova EP, Crowe BJ, Roeth R, Quigley CA, Ross JL, Niesler B.
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| J Med Genet 44(5):306-13. Epub 2006 Dec 20. 2007
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| 3 | SHOX, DCS, SHSIX
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| Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay.
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| Gatta V, Antonucci I, Morizio E, Palka C, Fischetto R, Mokini V, Tumini S, Calabrese G, Stuppia L.
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| J Hum Genet 52(1):21-7. Epub 2006 Nov 8. 2007
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| 4 | SHSIX, SHOX
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| High incidence of SHOX anomalies in individuals with short stature.
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| Huber C, Rosilio M, Munnich A, Cormier-Daire V; French SHOX GeNeSIS Module.
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| J Med Genet 43(9):735-9. Epub 2006 Apr 5. 2006
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