A pedigree of a rare Cb1X type X-linked methylmalonic acidemia due to transcriptional co-regulator HCFC1 mutation

LI Dongxiao, LIU Yupeng, DING Yuan, LI Xiyuan, SONG Jinqing, LI Mengqiu, QIN Yaping, YANG Yanling

Journal of Clinical Pediatrics . 2016, (3): 212 - . DOI: 10.3969 j.issn.1000-3606.2016.03.014