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Article

Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation.

American journal of medical genetics. Part A - 1 Apr 2020

Amlie-Wolf Louise, Moyer-Harasink Sue, Carr Ann-Marie, Giampietro Philip, Schneider Adele, Simon Mitchell

Abstract excerpt

Steel syndrome was initially described by H. H. Steel in 1993 in Puerto Rico, at which time he described the clinical findings required for diagnosis. The responsible gene, COL27A1, was identified in 2015 (Gonzaga-Jauregui et al., European Journal of Human Genetics, 2015;23:342-346). Eleven patients have previously been described with Steel syndrome and homozygous COL27A1 mutations, with eight having an apparent...

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Identifiers

PMID: 31903681
DOI: 10.1002/ajmg.a.61465

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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