Genetic analysis of NR0B1 in congenital adrenal hypoplasia patients: identification of a rare regulatory variant resulting in congenital adrenal hypoplasia and hypogonadal hypogonadism without testicular carcinoma in situ

A P Walker, R C Fowkes, F Saleh, S-H Kim, P Wilkinson, V Cabrera-Sharp, P J Talmud, S E Humphries, L H J Looijenga, P M G Bouloux

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Medicine and Dentistry