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Article

Steel syndrome: Report of three patients, including monozygotic twins and review of clinical and mutation profiles.

European journal of medical genetics - 1 Jun 2022

Girisha Katta M, Jacob Prince, SriLakshmi Bhavani Gandham, Shah Hitesh, Mortier Geert R

Abstract excerpt

Steel syndrome (MIM# 615155) is an autosomal recessive skeletal disorder, characterized by dislocations of the hips and radial heads, carpal coalition, short stature, facial dysmorphism, and scoliosis. Until date 47 patients have been reported. However, disease causing variants have been identified only in twenty Puerto Rican and nine non-Puerto Rican families. Here we report two monozygotic twins and a boy from...

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PMID: 35568358
DOI: 10.1016/j.ejmg.2022.104521

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