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1996 | 1 |
1997 | 1 |
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PubMed (OMIM) for id: 335354
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The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28:report of the first familial case.
Cytogenet Cell Genet. 1999;85(3-4):310-4. doi: 10.1159/000015284.
Cytogenet Cell Genet. 1999.
PMID: 10449925
Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy.
Laporte J, Kioschis P, Hu LJ, Kretz C, Carlsson B, Poustka A, Mandel JL, Dahl N.
Laporte J, et al.
Genomics. 1997 May 1;41(3):458-62. doi: 10.1006/geno.1997.4662.
Genomics. 1997.
PMID: 9169146
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Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region.
Hu LJ, Laporte J, Kress W, Kioschis P, Siebenhaar R, Poustka A, Fardeau M, Metzenberg A, Janssen EA, Thomas N, Mandel JL, Dahl N.
Hu LJ, et al.
Hum Mol Genet. 1996 Jan;5(1):139-43. doi: 10.1093/hmg/5.1.139.
Hum Mol Genet. 1996.
PMID: 8789451
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