Article
Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarism.
PloS one - 1 Jan 2012
Takagi Masaki, Ishii Tomohiro, Inokuchi Mikako, Amano Naoko, Narumi Satoshi, Asakura Yumi, Muroya Koji, Hasegawa Yukihiro, Adachi Masanori, Hasegawa Tomonobu
Abstract excerpt
Mutations in transcription factors genes, which are well regulated spatially and temporally in the pituitary gland, result in congenital hypopituitarism (CH) in humans. The prevalence of CH attributable to transcription factor mutations appears to be rare and varies among populations.This study aimed to define the prevalence of CH in terms of nine CH-associated genes among Japanese patients. We enrolled 91...
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