Open AccessResponse to growth hormone in patients with RNPC 3 mutations
Author(s) -
MartosMoreno Gabriel Á,
TraviesoSuárez Lourdes,
PozoRomán Jesús,
MuñozCalvo María T,
Chowen Julie A,
Frilander Mikko J,
PérezJurado Luis A,
Hawkins Federico G,
Argente Jesús
Publication year - 2018
Publication title -
embo molecular medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.923
H-Index - 107
eISSN - 1757-4684
pISSN - 1757-4676
DOI - 10.15252/emmm.201809143
Subject(s) - mutation , cancer research , medicine , genetics , biology , gene
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.