Prohormone convertase 1/3 deficiency
Definition:
References:
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[1]. I Sadaf Farooqi, et al. Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3. J Clin Endocrinol Metab. 2007 Sep;92(9):3369-73. [Content Brief]
[2]. Martín G Martín, et al. Congenital proprotein convertase 1/3 deficiency causes malabsorptive diarrhea and other endocrinopathies in a pediatric cohort. Gastroenterology. 2013 Jul;145(1):138-148. [Content Brief]
[3]. R S Jackson, et al. Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene. Nat Genet. 1997 Jul;16(3):303-6. [Content Brief]