Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia.

@article{Trarbach2006NovelFG,
  title={Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia.},
  author={Ericka Barbosa Trarbach and Elaine F Costa and Beatriz R Versiani and Margaret de Castro and Maria Tereza Matias Baptista and Heraldo Mendes Garmes and Berenice Bilharinho de Mendonça and Ana Claudia Latronico},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2006},
  volume={91 10},
  pages={4006-12}
}
CONTEXT Kallmann syndrome is a clinically and genetically heterogeneous disorder. To date, loss-of-function mutations in the genes encoding anosmin-1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1) have been described in the X-linked and autosomal dominant forms of this syndrome, respectively. OBJECTIVE The objective was to investigate genetic defects in the KAL1 and FGFR1 genes in patients with congenital isolated hypogonadotropic hypogonadism (IHH). PATIENTS Eighty patients (71… CONTINUE READING

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Perspectives in Pediatric Pathology, Chapter 18. Hypogonadotropic Hypogonadisms. Pediatric and Pubertal Presentations.

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