The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency.

@article{Cogan1998TheP2,
  title={The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency.},
  author={Joy Cogan and Wei Wu and John A. Phillips and Ivo Jorge Prado Arnhold and Ana Figueiredo Agapito and Olga V. Fofanova and Maria Geralda Farah Os{\'o}rio and Iffet Bircan and Antonia Garc{\'i}a Moreno and Berenice B Mendonca},
  journal={The Journal of clinical endocrinology and metabolism},
  year={1998},
  volume={83 9},
  pages={3346-9}
}
Combined pituitary hormone deficiency (CPHD) has an incidence of approximately 1 in 8000 births. Although the proportion of familial CPHD cases is unknown, about 10% have an affected first degree relative. We have recently reported three mutations in the PROP1 gene that cause CPHD in human subjects. We report here the frequency of one of these mutations, a 301-302delAG deletion in exon 2 of PROP1, in 10 independently ascertained CPHD kindreds and 21 sporadic cases of CPHD from 8 different… CONTINUE READING

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