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Interstitial duplication of 22q13.2 in a girl with short stature, impaired speech and language, and dysmorphism
The 22q13.3 deletion syndrome has been widely reported, with a known phenotype including global developmental delay, normal to accelerated growth and a characteristic facial appearance. A duplication syndrome involving this region has also been reported, with a somewhat more variable phenotype inclu...
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| Publicado no: | J Pediatr Genet |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Georg Thieme Verlag KG
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5020919/ https://ncbi.nlm.nih.gov/pubmed/27625801 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-2012-009 |
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