Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.
Ben Yaou R, Navarro C, Quijano-Roy S, Bertrand AT, Massart C, De Sandre-Giovannoli A, Cadiñanos J, Mamchaoui K, Butler-Browne G, Estournet B, Richard P, Barois A, Lévy N, Bonne G.
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Eur J Hum Genet. 2011 Jun;19(6):647-54. doi: 10.1038/ejhg.2010.256. Epub 2011 Jan 26.
Eur J Hum Genet. 2011.
PMID: 21267004
Free PMC article.