Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports

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Authors: Katja Kloth, Matthis Synofzik, Christoph Kernstock, Simone Schimpf-Linzenbold, Frank Schuettauf, Axel Neu, Bernd Wissinger, Nicole Weisschuh

Journal title: BMC Medical Genetics

Journal number: 20/1

Journal publisher: BioMed Central

Published year: 2019

DOI identifier: 10.1186/s12881-019-0795-x

ISSN: 1471-2350