Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in <i>IARS2</i>

Shahida Moosa(Stellenbosch University), Ida Vogel(Aarhus University Hospital), Janine Altmüller(Max Delbrück Center), Hölger Thiele(Leipzig Heart Institute), Ok‐Hwa Kim(Seoul National University Children's Hospital), Tae‐Joon Cho(Seoul National University Children's Hospital), Annette Haagerup(Aarhus University), Peter Nürnberg(University of Cologne), Bernd Wollnik(University of Göttingen), Pernille Axél Gregersen(Aarhus University Hospital), Karin Kastberg Petersen(Aarhus University Hospital), Gen Nishimura(Musashino University)
American Journal of Medical Genetics Part A
March 22, 2017
Cited by 23


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