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

We present her clinical features and particularly highlight her skeletal findings, which confirm the presence of a primary SEMD skeletal dysplasia in a growing list of mitochondrial‐related disorders including CAGSSS, CODAS, EVEN‐PLUS, and X‐linked SEMD‐MR syndromes.

Source: American Journal of Medical Genetics Part A - March 22, 2017 Category: Genetics & Stem Cells Authors: Shahida Moosa, Annette Haagerup, Pernille Axel Gregersen, Karin Kastberg Petersen, Janine Altm üller, Holger Thiele, Peter Nürnberg, Tae‐Joon Cho, Ok‐Hwa Kim, Gen Nishimura, Bernd Wollnik, Ida Vogel Tags: CLINICAL REPORT Source Type: research