An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in <i>NR0B1</i>

<div>(a) Pedigree of the studied family with the patient denoted in black. (b) DNA sequence chromatograms indicate the inherited c.218_219insACCA: p.His73GlnfsTer41 variant in <i>NR0B1</i>, encoding the nuclear receptor subfamily 0 group B member 1.</div>

International Journal of Endocrinology

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Figure 1

Figure 1: An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in <i>NR0B1</i> 

Figure 1 | An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in NR0B1 