Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population.

@article{Chiu2006IdentificationOT,
  title={Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population.},
  author={Wei-Yih Chiu and Huan-wen Chen and Hwei-Wen Chao and Lee-Tzong Yann and K T Tsai},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2006},
  volume={91 11},
  pages={4587-92}
}
BACKGROUND Familial hypoparathyroidism may be caused by mutations of several genes. The CaSR and GATA3 genes are the two candidates most commonly responsible for this condition. OBJECTIVES We collected five unrelated families with familial hypoparathyroidism and examined their CaSR and GATA3 genes. METHODS Blood samples from these five families and 50 ethnically matched unrelated controls were acquired. Biochemistry screening and formal audiogram were performed to evaluate the affected… CONTINUE READING

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