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Enhancer elements upstream of the SHOX gene are active in the developing limb
Léri-Weill Dyschondrosteosis (LWD) is a dominant skeletal disorder characterized by short stature and distinct bone anomalies. SHOX gene mutations and deletions of regulatory elements downstream of SHOX resulting in haploinsufficiency have been found in patients with LWD. SHOX encodes a homeodomain...
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| Päätekijät: | , , , , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Nature Publishing Group
2010
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2987325/ https://ncbi.nlm.nih.gov/pubmed/19997128 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.216 |
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