Clinical exome sequencing leads to the diagnosis of mitochondrial complex I deficiency in a family with global developmental delays, ataxia, and cerebellar and pons hypoplasia
Titel:
Clinical exome sequencing leads to the diagnosis of mitochondrial complex I deficiency in a family with global developmental delays, ataxia, and cerebellar and pons hypoplasia
Auteur:
Kimonis, Virginia Gonzalez, Kelly Zeng, Wenqi Gray, Phillip Tang, Sha Wei, Jennifer Li, X. Lu, HM. Lu, H. Chao, Elizabeth