Article
A novel dysfunctional LHX4 mutation with high phenotypical variability in patients with hypopituitarism.
The Journal of clinical endocrinology and metabolism - 1 Jul 2008
Castinetti F, Saveanu A, Reynaud R, Quentien M H, Buffin A, Brauner R, Kaffel N, Albarel F, Guedj A M, El Kholy M, Amin M, Enjalbert A, Barlier A, Brue T
Abstract excerpt
CONTEXT: LHX4 is a LIM homeodomain transcription factor involved in pituitary ontogenesis. Only a few heterozygous LHX4 mutations have been reported to be responsible for congenital pituitary hormone deficiency. SUBJECTS AND METHODS: A total of 136 patients with congenital hypopituitarism associated with malformations of brain structures, pituitary stalk, or posterior pituitary gland was screened for LHX4...
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