Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1).

@article{Znaty2006PaediatricPO,
  title={Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1).},
  author={Delphine Z{\'e}naty and Patricia Bretones and C{\'e}cile Lambe and Isabelle Guemas and Michel David and Juliane L{\'e}ger and Nicolas de Roux},
  journal={Molecular and cellular endocrinology},
  year={2006},
  volume={254-255},
  pages={78-83}
}
Kallmann syndrome characterised by hypogonadotropic hypogonadism (HH) and anosmia is genetically heterogeneous with X-linked, autosomal dominant and autosomal recessive forms. The autosomal dominant form due to loss of function mutation in the fibroblast growth factor receptor 1 (FGFR1) accounts for about 10% of cases. We report here three paediatric cases of Kallmann syndrome with unusual phenotype in two unrelated patients with severe ear anomalies (hypoplasia or agenesis of external ear… CONTINUE READING
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