An atypical kindred with X-linked adrenal hypoplasia congenita, normal puberty, and normal Dax-1 promoter and coding sequence

• Main Authors: Loke, K.Y., Poh, K.S.L., Walker, A.P., Tan, J.A.M.A., Tay, A.H.N.
• Format: Article
• Language: English
• Published: 2000
• Subjects: R Medicine
• Online Access: http://eprints.um.edu.my/3727/1/An_atypical_kindred_with_X-linked_adrenal_hypoplasia.pdf; http://eprints.um.edu.my/3727/
• Institution: Universiti Malaya

We report a Chinese kindred with an atypical sex-linked form of isolated adrenal hypoplasia without hypogonadotropic hypogonadism, Evidence of sex linkage was supported by DNA analysis using three polymorphic markers from the X-chromosome: a restriction fragment length polymorphism 200 kb centromeri...