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Idiopathic Short Stature due to Novel Heterozygous Mutation of the Aggrecan Gene
BACKGROUND: Recently, whole exome sequencing identified heterozygous defects in the Aggrecan gene (ACAN) in three families with short stature and advanced bone age. OBJECTIVE: We report a novel frameshift mutation in ACAN in a family with dominantly inherited short stature, advanced bone age, and pr...
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| Publicado no: | J Pediatr Endocrinol Metab |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4501863/ https://ncbi.nlm.nih.gov/pubmed/25741789 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1515/jpem-2014-0450 |
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