Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings

Y. Miyoshi, M. Akagi, A. K. Agarwal, N. Namba, K. Kato-Nishimura, I. Mohri, M. Yamagata, S. Nakajima, S. Mushiake, M. Shima, R. J. Auchus, M. Taniike, A. Garg, K. Ozono

Research output: Contribution to journalArticlepeer-review

40 Scopus citations

Fingerprint

Dive into the research topics of 'Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings'. Together they form a unique fingerprint.

Medicine & Life Sciences