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Article

Fifty years of recognizable patterns of human malformation: Insights and opportunities.

American journal of medical genetics. Part A - 1 Sept 2021

Innes A Micheil, Lynch Danielle C

Abstract excerpt

Now in its 7th edition, Smith's Recognizable Patterns of Human Malformation was first published in 1970. This 1st edition comprised 135 "dysmorphic syndromes of multiple primary defects" and 12 "single syndromic malformations resulting in secondary defects." Of the former, other than a few chromosomal and environmental disorders, most were heritable conditions of then unknown etiology. In 2021, the majority of...

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Identifiers

PMID: 33951288
DOI: 10.1002/ajmg.a.62240

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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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