Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism

@inproceedings{Scholl2015RecurrentGO,
  title={Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism},
  author={Ute I Scholl and Gabriel St{\"o}lting and Carol Nelson-Williams and Alfred A. Vichot and Murim Choi and Erin C. Loring and Manju Lata Prasad and Gerald Goh and Tobias Carling and C Christofer Juhlin and Ivo Quack and Lars Christian Rump and Anne Thiel and Marc B. Lande and Britney G Frazier and Majid Rasoulpour and David L Bowlin and Christine Bumatay Sethna and Howard A. Trachtman and Christoph Fahlke and Richard P. Lifton},
  booktitle={eLife},
  year={2015}
}
Many Mendelian traits are likely unrecognized owing to absence of traditional segregation patterns in families due to causation by de novo mutations, incomplete penetrance, and/or variable expressivity. Genome-level sequencing can overcome these complications. Extreme childhood phenotypes are promising candidates for new Mendelian traits. One example is early onset hypertension, a rare form of a global cause of morbidity and mortality. We performed exome sequencing of 40 unrelated subjects with… CONTINUE READING
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