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Case Reports
. 2018 Jul;10(7):e9143.
doi: 10.15252/emmm.201809143.

Response to growth hormone in patients with RNPC3 mutations

Gabriel Á Martos-Moreno  1   2   3   4 , Lourdes Travieso-Suárez  1   2   3 , Jesús Pozo-Román  1   2   3   4 , María T Muñoz-Calvo  1   2   3   4 , Julie A Chowen  1   2   3   4   5 , Mikko J Frilander  6 , Luis A Pérez-Jurado  7   8   9 , Federico G Hawkins  10 , Jesús Argente  1   2   3   4   5
Affiliations
Case Reports

Response to growth hormone in patients with RNPC3 mutations

Gabriel Á Martos-Moreno et al. EMBO Mol Med. 2018 Jul.

Abstract

After 6 years of Growth Hormone (GH) therapy, three patients with a defect in minor spliceosome mRNA processing leading to an incompletely understood GH deficit present with excellent auxological response and improvement in the bone mineral density and trabecular bone structure.

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Figures

Figure 1
Figure 1. Growth charts of the three sisters after GH therapy
Facial appearance at baseline and growth charts of patients 1 (A), 2 (B), and 3 (C). Blue circles represent height for chronological age, whereas yellow triangles represent height for bone age. BA, bone age; CA, chronological age; GH, start of recombinant growth hormone treatment; TH, target height. Faces of the patients reproduced with permission. (D) Changes in body fat content and distribution showing the lipolytic effect of recombinant human growth hormone treatment in patient 1 after 6 and 12 months of therapy from baseline. Reproduced with permission.
See this image and copyright information in PMC

References

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