| Cleft palate, bilateral external auditory canal atresia, and other midline defects associated with Diamond-Blackfan anemia: case report. | |
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MedLine Citation:
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PMID: 17483715 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Diamond-Blackfan anemia (DBA) is associated with congenital anomalies especially of the midline. When present, facial anomalies are reminiscent of Treacher-Collins syndrome, and both DBA and Treacher-Collins syndrome are disorders of ribosomal biogenesis. Herein, we describe a female infant with multiple midline defects associated with DBA and reaffirm the absence of RPS-19 mutations in DBA patients with facial anomalies. |
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Authors:
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Alicia McFarren; Somasundaram Jayabose; Mehmet Fevzi Ozkaynak; Oya Tugal; Claudio Sandoval |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of pediatric hematology/oncology Volume: 29 ISSN: 1077-4114 ISO Abbreviation: J. Pediatr. Hematol. Oncol. Publication Date: 2007 May |
Date Detail:
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Created Date: 2007-05-07 Completed Date: 2007-09-13 Revised Date: 2011-10-06 |
Medline Journal Info:
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Nlm Unique ID: 9505928 Medline TA: J Pediatr Hematol Oncol Country: United States |
Other Details:
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Languages: eng Pagination: 338-40 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, New York Medical College, and Maria Fareri Children's Hospital, Valhalla, New York 10595, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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diagnosis*,
genetics Anemia, Diamond-Blackfan / complications*, diagnosis, genetics Cleft Palate / complications*, diagnosis, genetics Ear Canal / abnormalities* Female Hearing Loss, Bilateral / complications*, diagnosis, genetics Humans Infant Infant, Newborn Mandibulofacial Dysostosis / complications*, diagnosis, genetics Mutation Phenotype Ribosomal Proteins / genetics Tomography, X-Ray Computed / methods |
| Chemical | |
Reg. No./Substance:
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0/Ribosomal Proteins; 0/ribosomal protein S19 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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