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

Article

Abstract: Mandibuloacral dysplasia (MAD) is a rare autosomal recessive progeroid syndrome, characterized by ma

Palabras claves:

Lamin A, Lipodystrophy, Mandibuloacral dysplasia, Progeroid syndrome, ZMPSTE24

Autores:

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

Fuentes:

scopus