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Article

Climbing the branches of a family tree: diagnosis of fragile X syndrome.

The Journal of pediatrics - 1 Jun 2014

Visootsak Jeannie, Hipp Heather, Clark Heather, Berry-Kravis Elizabeth, Anderson Tovi, Laney Dawn

Abstract excerpt

OBJECTIVE: To determine the average number of family members 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 had been evaluated at the Fragile X Syndrome Center at Emory University in Atlanta, Georgia. Through these pedigrees, we determined the number of additional family...

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Identifiers

PMID: 24612903
DOI: 10.1016/j.jpeds.2014.01.051
PMCID: PMC4035419

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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