Article

Limb Specific Failure of Proliferation and Translation in the Mesenchyme Leads to Skeletal Defects in Diamond Blackfan Anemia

2022-01-14

Abstract excerpt

<h4> Abstract </h4> Ribosomopathies are a class of disorders caused by defects in the structure or function of the ribosome and characterized by tissue-specific abnormalities. Diamond Blackfan anemia (DBA) arises from different mutations, predominantly in genes encoding ribosomal proteins (RPs). Apart from the anemia, skeletal defects are among the most common anomalies observed in patients with DBA, but they ar...

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Literature Corpus work: 2b40680d-5fc1-5130-bc7f-567580c201fd
DOI: 10.1101/2022.01.14.476336

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