A PDE3A mutation in familial hypertension and brachydactyly syndrome

@article{Boda2016APM,
  title={A PDE3A mutation in familial hypertension and brachydactyly syndrome},
  author={Hiroko Boda and Hidetoshi Uchida and Nobue Takaiso and Yuya Ouchi and Naoko Fujita and Asami Kuno and Tadayoshi Hata and Arisa Nagatani and Yuri Funamoto and Masafumi Miyata and Tetsushi Yoshikawa and Hiroki Kurahashi and Hidehito Inagaki},
  journal={Journal of Human Genetics},
  year={2016},
  volume={61},
  pages={701-703}
}
Hypertension and brachydactyly syndrome (HTNB) with short stature is an autosomal-dominant disorder. Mutations in the PDE3A gene located at 12p12.2-p11.2 were recently identified in HTNB families. We found a novel heterozygous missense mutation c.1336T>C in exon 4 of the PDE3A gene in a Japanese family with multiple HTNB patients. This mutation was found to be completely linked to the family members who inherited this condition. The mutation, resulting in p.Ser446Pro, was located within the… CONTINUE READING
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