Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis (DBA14)

Alias:

Dba14

Anemia, Diamond-Blackfan, Type 14 with Mandibulofacial Dysostosis

Diamond-Blackfan Anemia 14, with Mandibulofacial Dysostosis

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis, also known as dba14, is related to diamond-blackfan anemia and severe congenital neutropenia 3. An important gene associated with Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis is TSR2 (TSR2 Ribosome Maturation Factor). Affiliated tissues include bone marrow and bone, and related phenotypes are microtia and cleft palate

Related ID：

MALACARDS：DMN037

OMIM：300946

MESH：D029503