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Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome
INTRODUCTION: The 22q13.3 deletion syndrome (MIM 606232) is characterised by neonatal hypotonia, normal to accelerated growth, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. We report the molecular characterisation of the deletion breakpoint in t...
Gorde:
| Egile Nagusiak: | , , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
BMJ Group
2006
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2563164/ https://ncbi.nlm.nih.gov/pubmed/16284256 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.038604 |
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