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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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Autores principales: Visootsak, Jeannie, Hipp, Heather, Clark, Heather, Berry-Kravis, Elizabeth, Anderson, Tovi, Laney, Dawn
Formato: Artigo
Lenguaje:Inglês
Publicado: 2014
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Acceso en línea: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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