Mitochondrial complex deficiency by novel compound heterozygous TMEM70 variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case report
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Y. Okazaki | Y. Kishita | A. Ohtake | K. Murayama | M. Kohda | K. Hirono | F. Ichida | J. Mayr | R. Feichtinger | Minako Ogawa-Tominaga | Takuya Fushimi | T. Fushimi | Natsuhito Nishio | Keiichi Hirono | Yoshihito Kishita | Masakazu Kohda