Molecular Diagnosis and Endocrine Evaluation of a Patient with a Homozygous 7.0 kb Deletion of the Growth Hormone (GH) Gene Cluster: Response to Biosynthetic GH Therapy

@article{LAPrezJurado1997MolecularDA,
  title={Molecular Diagnosis and Endocrine Evaluation of a Patient with a Homozygous 7.0 kb Deletion of the Growth Hormone (GH) Gene Cluster: Response to Biosynthetic GH Therapy},
  author={L.A. P{\'e}rez Jurado and Jes{\'u}s Argente and Vicente Barrios and Jaime S{\'a}nchez del Pozo and M. Camacho Mu{\~n}oz and M Vanegas Hernandez and Uta Francke},
  journal={Journal of Pediatric Endocrinology and Metabolism},
  year={1997},
  volume={10},
  pages={185 - 190}
}
  • L.A. Pérez Jurado,, Jesús Argente, +4 authors Uta Francke
  • Published in
    Journal of pediatric…
    1997
  • Medicine
  • A significant proportion of cases of GH deficiency (5-30%) may be due to genetic causes. At least four Mendelian types of isolated GH deficiency (IGHD) have been delineated based on the mode of inheritance and the degree of GH deficiency, with IGHD type IA being the most severe. A 2 year-old girl, the second child of consanguineous parents, with short stature was diagnosed with IGHD type IA. The analysis of the genomic DNA of this patient, performed by polymerase chain reaction (PCR… CONTINUE READING

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