Myotubular Myopathy with Abnormal Genital Development
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_945-1
Reference5 articles.
1. Bartsch O, Kress W, Wagner A, Seemanova E (1999) The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28:report of the first familial case. Cytogenet Cell Genet 85(3–4):310–314
2. Fukami M, Wada Y, Miyabayashi K, Nishino I, Hasegawa T, Nordenskjold A et al (2006) CXorf6 is a causative gene for hypospadias. Nat Genet 38(12):1369–1371
3. Hu LJ, Laporte J, Kress W, Kioschis P, Siebenhaar R, Poustka A et al (1996) Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region. Hum Mol Genet 5(1):139–143
4. Laporte J, Kioschis P, Hu LJ, Kretz C, Carlsson B, Poustka A et al (1997) Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy. Genomics 41(3):458–462
5. Pierson CR, Tomczak K, Agrawal P, Moghadaszadeh B, Beggs AH (2005) X-linked myotubular and centronuclear myopathies. J Neuropathol Exp Neurol 64(7):555–564
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