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Blood tests may be arranged to check testosterone levels (repeated in the morning), glucose, lipids, thyroid function, and sometimes LH/FSH and prolactin

Shared and unique homozygous variants among UCL, SL, and Canton-S 102 were analysed

Aug 2014;13(4):35-43

Mutations in the MBD of MECP2, affecting its DNA-binding affinity, can be classified into three categories: those causing significant reduction (e.g., L110V, S134C, P152R, D156E), moderate increase (e.g., A140V, R111G), and minimal or slight effects (e.g., F155S, R106Q, R106W, R133C, R133H) on MECP2s DNA-binding affinity (34, 106, 107)