A large deletion of PROP1 gene in patients with combined pituitary hormone deficiency from two unrelated Chinese pedigrees.

@article{Zhang2010ALD,
  title={A large deletion of PROP1 gene in patients with combined pituitary hormone deficiency from two unrelated Chinese pedigrees.},
  author={Huiwen Zhang and Yi Wang and Lianshu Han and Xue-fan Gu and Dingping Shi},
  journal={Hormone research in paediatrics},
  year={2010},
  volume={74 2},
  pages={98-105}
}
BACKGROUND Familial combined pituitary hormone deficiency (CPHD) appears to have a genetic cause, PROP1 gene mutations being the most common one. We investigated whether PROP1 plays a role in two Chinese familial cases of CPHD. METHODS PROP1 gene and adjacent sequences from genomic samples from two unrelated families were amplified to investigate molecular variations and define the extension of a potential deletion. A quantitative real-time polymerase chain reaction was conducted to analyze… CONTINUE READING

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Reproduced with the permission

  • AG S.Karger, Basel
  • 2010

SOX 2 anophthalmia syndrome

  • NK Ragge, B Lorenz, +10 authors V vanHeyningen
  • Am J Med Genet
  • 2005

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