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Article

Phenotypic checklist to screen for fragile X syndrome in people with mental retardation.

Mental retardation - 1 Jun 2000

Maes B, Fryns J P, Ghesquière P, Borghgraef M

Abstract excerpt

The development of a phenotypic checklist for identifying people with fragile X syndrome is described. The checklist was designed to identify people with developmental disabilities of unknown causes for molecular genetic testing for fragile X syndrome. The list consists of 28 items (7 on physical characteristics and 21 on behavioral features). Validation data were collected for 110 boys and men with fragile X...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10900928
DOI: 10.1352/0047-6765(2000)038<0207:PCTSFF>2.0.CO;2

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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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