Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation

✍ Scribed by Massart, Catherine; De Sandre-Giovannoli, Annachiara; Cadiñanos, Juan; Mamchaoui, Kamel; Butler-Browne, Gillian; Estournet, Brigitte; Yaou, Rabah Ben; Navarro, Claire; Quijano-Roy, Susana; Bertrand, Anne T

• Book ID: 109849366
• Publisher: Nature Publishing Group
• Year: 2011
• Tongue: English
• Weight: 988 KB
• Volume: 19
• Category: Article
• ISSN: 1018-4813
• DOI: 10.1038/ejhg.2010.256