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Article

Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1.

Clinical genetics - 1 Sept 2017

Kotabagi S, Shah H, Shukla A, Girisha K M

Abstract excerpt

Steel syndrome is a rare disorder of the skeleton characterized by facial dysmorphism, short stature, carpal coalition, dislocated radial heads, bilateral hip dislocation and vertical talus. Homozygous variants in COL27A1 were reported in an extending family from Puerto Rico. Here, we report a 5-year-old girl from a non-consanguineous family with facial dysmorphism, short stature, carpal coalition, dislocation of...

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PMID: 28276056
DOI: 10.1111/cge.13006

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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.

Related research

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Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1.PMID 28276056Read ↗

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Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation.Semantic proximity Read ↗

Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.Semantic proximity Read ↗

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