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Article

Skeletal dysplasias detectable by DNA analysis.

Prenatal diagnosis - 1 Dec 1996

Reardon W

Abstract excerpt

The emerging data of the last few years outlining the molecular basis of skeletal dysplasias has been instructive in several respects. The number of genetic loci involved appears to be much fewer than anticipated. This is offset by the identification of several instances where phenotypically distinct entities are found to be allelic variants. With respect to diagnosis by DNA, most of the conditions recognized...

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

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Source

Identifiers

PMID: 9061753
DOI: 10.1002/(SICI)1097-0223(199612)16:13<1221::AID-PD97>3.0.CO;2-E

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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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