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- Colvin, Stephanie C.; Malik, Raleigh E.; Showalter, Aaron D.; Sloop, Kyle W.; Rhodes, Simon J.
- Proceedings of the National Academy of Sciences of the United States of America 2011 v.108 no.1 pp. 173-178
- viability, etc ; animal models; anterior pituitary hormones; children; deficiency diseases; etiology; female fertility; gene activation; homozygosity; humans; metabolic diseases; mice; mutation; nervous system; neurodevelopment; patients; pituitary gland; regulator genes; stop codon; tissues; transcription factors; Show all 21 Subjects
- ... The etiology of most pediatric hormone deficiency diseases is poorly understood. Children with combined pituitary hormone deficiency (CPHD) have insufficient levels of multiple anterior pituitary hormones causing short stature, metabolic disease, pubertal failure, and often have associated nervous system symptoms. Mutations in developmental regulatory genes required for the specification of the ho ...
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