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Fragile X syndrome with FMR1 and FMR2 deletion
We report a 13 year old boy with fragile X syndrome resulting from a de novo deletion of the FMR1 and FMR2 genes extending from (and including) DXS7536 proximally to FMR2 distally. The patient has severe developmental delay, epilepsy, and behavioural difficulties, including autistic features. He has...
Gorde:
| Egile Nagusiak: | , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
BMJ Group
1999
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1734406/ https://ncbi.nlm.nih.gov/pubmed/10424820 |
| Etiketak: |
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