Associated Papers
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.
Gonzaga-Jauregui C et al.
European Journal of Human Genetics : Ejhg, 2020
Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation.
Amlie-Wolf L et al.
American Journal of Medical Genetics. Part A, 2020
A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye.
Pölsler L et al.
American Journal of Medical Genetics. Part A, 2020
Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability.
Thuresson AC et al.
Clinical Genetics, 2019
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