Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features suggestive of dyskeratosis congenita and IMAGe association
dc.contributor.author | McDonald, Sharon | en_US |
dc.contributor.author | Wilson, David B. | en_US |
dc.contributor.author | Pumbo, Elena | en_US |
dc.contributor.author | Kulkarni, Shashikant | en_US |
dc.contributor.author | Mason, Philip J. | en_US |
dc.contributor.author | Else, Tobias | en_US |
dc.contributor.author | Bessler, Monica | en_US |
dc.contributor.author | Ferkol, Thomas | en_US |
dc.contributor.author | Shenoy, Shalini | en_US |
dc.date.accessioned | 2009-11-30T16:44:22Z | |
dc.date.available | 2011-03-01T16:26:43Z | en_US |
dc.date.issued | 2010-01 | en_US |
dc.identifier.citation | McDonald, Sharon; Wilson, David B.; Pumbo, Elena; Kulkarni, Shashikant; Mason, Philip J.; Else, Tobias; Bessler, Monica; Ferkol, Thomas; Shenoy, Shalini (2010). "Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features suggestive of dyskeratosis congenita and IMAGe association The authors have no conflicts of interest to disclose. ." Pediatric Blood & Cancer 54(1): 154-157. <http://hdl.handle.net/2027.42/64444> | en_US |
dc.identifier.issn | 1545-5009 | en_US |
dc.identifier.issn | 1545-5017 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/64444 | |
dc.description.abstract | We describe a case of acquired monosomy 7 myelodysplastic syndrome (MDS) in a boy with congenital adrenocortical insufficiency, genital anomalies, growth delay, skin hyperpigmentation, and chronic lung disease. Some of his clinical manifestations were suggestive of dyskeratosis congenita (DC), while other features resembled IMAGe association. DC has been linked to mutations in telomere maintenance genes. The genetic basis of IMAGe association is unknown, although mice harboring a mutation in a telomere maintenance gene, Tpp1 , have adrenal hypoplasia congenita. We considered the possibility that this patient has a defect in telomere function resulting in features of both DC and IMAGe association. Pediatr Blood Cancer 2010; 54:154–157. © 2009 Wiley-Liss, Inc. | en_US |
dc.format.extent | 156749 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.publisher | Wiley Subscription Services, Inc., A Wiley Company | en_US |
dc.subject.other | Life and Medical Sciences | en_US |
dc.subject.other | Cancer Research, Oncology and Pathology | en_US |
dc.title | Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features suggestive of dyskeratosis congenita and IMAGe association | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Pediatrics | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationother | Department of Pediatrics, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, Missouri ; Department of Pediatrics, Washington University School of Medicine, 660 S. Euclid Ave., Box 8116, St. Louis, MO 63110. | en_US |
dc.contributor.affiliationother | Department of Pediatrics, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, Missouri ; Department of Developmental Biology, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, Missouri | en_US |
dc.contributor.affiliationother | Department of Internal Medicine, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, Missouri | en_US |
dc.contributor.affiliationother | Department of Pediatrics, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, Missouri | en_US |
dc.contributor.affiliationother | Department of Internal Medicine, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, Missouri ; Department of Genetics, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, Missouri | en_US |
dc.contributor.affiliationother | Department of Developmental Biology, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, Missouri ; Department of Internal Medicine, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, Missouri | en_US |
dc.contributor.affiliationother | Department of Pediatrics, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, Missouri | en_US |
dc.contributor.affiliationother | Department of Pediatrics, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, Missouri | en_US |
dc.identifier.pmid | 19760774 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/64444/1/22283_ftp.pdf | |
dc.identifier.doi | 10.1002/pbc.22283 | en_US |
dc.identifier.source | Pediatric Blood & Cancer | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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