Central hypothyroidism reveals compound heterozygous mutations in the Pit-1 gene.

doi:10.1159/000023134

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Article

Central hypothyroidism reveals compound heterozygous mutations in the Pit-1 gene.

Hormone research - 1 Jan 1998

Brown M R, Parks J S, Adess M E, Rich B H, Rosenthal I M, Voss T C, VanderHeyden T C, Hurley D L

Abstract excerpt

Mutations in the gene encoding the Pit-1 transcriptional activator interfere with the embryologic determination and ultimate functions of anterior pituitary cells that produce growth hormone (GH), prolactin (Prl) and thyroid-stimulating hormone (TSH). Central hypothyroidism is often the presentin...

Topics

Alleles
DNA-Binding Proteins
Exons
Growth Hormone
Heterozygote
Humans
Hypothyroidism
Infant
Male
Mutation
Phenotype
Polymerase Chain Reaction
Thyroxine
Transcription Factor Pit-1
Transcription Factors

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