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- W2012142389 abstract "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." @default.
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- W2012142389 date "2007-05-01" @default.
- W2012142389 modified "2023-09-24" @default.
- W2012142389 title "Cleft Palate, Bilateral External Auditory Canal Atresia, and Other Midline Defects Associated With Diamond-Blackfan Anemia" @default.
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- W2012142389 doi "https://doi.org/10.1097/mph.0b013e31805d8f45" @default.
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