IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.

@article{Vasques2017IHHGM,
  title={IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.},
  author={Gabriela de Andrade Vasques and Mariana F. A. Funari and Frederico Moraes Ferreira and Miriam Aza-Carmona and Luc{\'i}a Sentchordi-Montan{\'e} and Jimena Barraza-Garc{\'i}a and Antonio Marcondes Lerario and Guilherme Lopes Yamamoto and Michel Satya Naslavsky and Yeda A O Duarte and D R Bertola and Karen E Heath and Alexander A. L. Jorge},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2017},
  volume={103 2},
  pages={
          604-614
        }
}
Context Genetic evaluation has been recognized as an important tool to elucidate the causes of growth disorders. Objective To investigate the cause of short stature and to determine the phenotype of patients with IHH mutations, including the response to recombinant human growth hormone (rhGH) therapy. Patients and Methods We studied 17 families with autosomal-dominant short stature by using whole exome sequencing and screened IHH defects in 290 patients with growth disorders. Molecular… CONTINUE READING
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