A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival

Am J Med Genet A. 2016 Sep;170(9):2436-9. doi: 10.1002/ajmg.a.37823. Epub 2016 Jun 29.

Shahida Moosa¹, Virginia Fano², Maria Gabriela Obregon³, Janine Altmüller^{4

5}, Holger Thiele⁵, Peter Nürnberg^{5

6}, Gen Nishimura⁷, Bernd Wollnik¹

¹ Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
² Department of Growth and Development, Garrahan Pediatrics Hospital, Buenos Aires, Argentina.
³ Department of Medical Genetics, Garrahan Pediatrics Hospital, Buenos Aires, Argentina.
⁴ Institute of Human Genetics, University of Cologne, Cologne, Germany.
⁵ Cologne Center for Genomics, University of Cologne, Cologne, Germany.
⁶ Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.
⁷ Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

No abstract available

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