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

Por Miyoshi, Y, Akagi, M, Agarwal, AK, Namba, N, Kato-Nishimura, K, Mohri, I, Yamagata, M, Nakajima, S, Mushiake, S, Shima, M, Auchus, RJ, Taniike, M, Garg, A, Ozono, K
Publicado em 2008