Response to growth hormone in patients with RNPC 3 mutations

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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Bibliographic Details
Published in:EMBO molecular medicine 2018-07, Vol.10 (7)
Main Authors: Gabriel Á Martos‐Moreno, Lourdes Travieso‐Suárez, Jesús Pozo‐Román, María T Muñoz‐Calvo, Chowen, Julie A, Frilander, Mikko J, Luis A Pérez‐Jurado, Hawkins, Federico G, Argente, Jesús
Format: Article
Language:English
Subjects:
Adipose tissue
Age
Body composition
Body fat
Bone density
Bone growth
Bone mineral density
Cancellous bone
Developmental stages
Dual energy X-ray absorptiometry
Growth hormone
Growth hormones
Hormone replacement therapy
mRNA
mRNA processing
Mutation
Patients
Puberty
Siblings
Software
Spine (lumbar)
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Description
Summary: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.
ISSN:1757-4676
1757-4684
DOI:10.15252/emmm.201809143