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An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion
In a 2 and a half-year-old girl with onset of puberty before the age of 5 months, short stature, hand anomalies and severe mental retardation, an 8.9 Mb interstitial 19p13 duplication containing 215 predicted genes was detected. It was initially assumed that the duplication involved the kisspeptin r...
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| Main Authors: | , , , , , , , |
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| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
Nature Publishing Group
2009
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| Ábhair: | |
| Rochtain Ar Líne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2986486/ https://ncbi.nlm.nih.gov/pubmed/19156171 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.261 |
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