Associated Papers
A single-amino-acid in-frame deletion in CYP17A1 results in combined 17-hydroxylase and 17,20-lyase deficiency in an Iranian family despite the protein mutation site.
Habib A et al.
Human Genome Variation, 2021
Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development.
Kim JH et al.
Molecular and Cellular Endocrinology, 2017
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