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

✍ Scribed by Y Miyoshi; M Akagi; AK Agarwal; N Namba; K Kato-Nishimura; I Mohri; M Yamagata; S Nakajima; S Mushiake; M Shima; RJ Auchus; M Taniike; A Garg; K Ozono

• Book ID: 110888593
• Publisher: John Wiley and Sons
• Year: 2008
• Tongue: English
• Weight: 643 KB
• Volume: 73
• Category: Article
• ISSN: 0009-9163
• DOI: 10.1111/j.1399-0004.2008.00992.x