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Article

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

American journal of medical genetics. Part A - 1 Sept 2014

Gripp Karen W, Curry Cynthia, Olney Ann Haskins, Sandoval Claudio, Fisher Jamie, Chong Jessica Xiao-Ling, Pilchman Lisa, Sahraoui Rebecca, Stabley Deborah L, Sol-Church Katia

Abstract excerpt

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...

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Source

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Identifiers

PMID: 24942156
DOI: 10.1002/ajmg.a.36633
PMCID: PMC4149220

Genes

RPS28
RPS26
TSR2
GATA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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