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Isolated haploinsufficiency of exon 1 of the SHOX gene in a patient with idiopathic short stature
This paper reports the case of a 16‐year‐old woman with idiopathic short stature (ISS) who was detected to be haploinsufficient in only exon 1 of the short stature homeobox‐containing (SHOX) gene by RQ‐PCR and had two copies of the other six exons intact. The translation of the SHOX protein and of t...
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| Autors principals: | , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMJ Group
2006
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1860432/ https://ncbi.nlm.nih.gov/pubmed/16803952 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jcp.2005.028894 |
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