A New Compound Heterozygous Frameshift Mutation in the Type II 3 Beta-Hydroxysteroid Dehydrogenase Gene Causes Salt-Wasting 3 Beta-HSD Deficiency Congenital Adrenal Hyperplasia

    L Zhang, Hala Sakkal-Alkaddour, Ying Chang, Xuan Yang, Songya Pang
    Studysummary This study identified a compound heterozygous mutation in the 3 beta-HSD gene that confirmed inherited 3 beta-HSD deficiency in a Pakistani child with salt-wasting congenital adrenal hyperplasia.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
    Discuss this study in the Community →