TSR2, ribosome maturation factor
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- Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
Diamond-Blackfan anemia 14, with mandibulofacial dysostosis (DBA14): A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. [MIM:300946]