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Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype
