Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.

@article{Gripp2014DiamondBlackfanAW,
  title={Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.},
  author={Karen W. Gripp and Cynthia Curry and Ann Haskins Olney and Claudio Sandoval and Jamie L Fisher and Jessica X Chong and Lisa Pilchman and Rebecca Sahraoui and Deborah L. Stabley and Katia Sol-Church},
  journal={American journal of medical genetics. Part A},
  year={2014},
  volume={164A 9},
  pages={2240-9}
}
Patients with physical findings suggestive of Treacher Collins syndrome (TCS) or mandibulofacial dysostosis (MFD) and macrocytic anemia diagnostic of Diamond-Blackfan anemia (DBA) have been reported. Disease-causing genes have been identified for TCS and other MFDs. Mutations in several ribosomal protein genes and the transcription factor GATA1 result in DBA. However, no disease-causing mutation had been identified in the reported patients with the combination of TCS/MFD and DBA phenotype, and… CONTINUE READING
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