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Article

Newborn screening and cascade testing for FMR1 mutations.

American journal of medical genetics. Part A - 1 Jan 2013

Sorensen Page L, Gane Louise W, Yarborough Mark, Hagerman Randi J, Tassone Flora

Abstract excerpt

We describe an ongoing pilot project in which newborn screening (NBS) for FMR1 mutations and subsequent cascade testing are performed by the MIND Institute at the University of California, Davis Medical Center (UCDMC). To date, out of 3,042 newborns initially screened, 44 extended family members...

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Source

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Identifiers

PMID: 23239591
DOI: 10.1002/ajmg.a.35680
PMCID: PMC3980469

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23239591-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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