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Climbing the Branches of a Family Tree: Diagnosis of Fragile X Syndrome
OBJECTIVE: To determine the average number of family members who are diagnosed with a Fragile X Mental Retardation-1 (FMR1) mutation after a proband receives the initial diagnosis of Fragile X syndrome (FXS). STUDY DESIGN: We reviewed pedigrees of families who have been evaluated at the Fragile X Ce...
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| Main Authors: | , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2014
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4035419/ https://ncbi.nlm.nih.gov/pubmed/24612903 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jpeds.2014.01.051 |
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