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Article

First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond-Blackfan anemia.

American journal of hematology - 1 Feb 2013

Da Costa Lydie, Chanoz-Poulard Geneviève, Simansour Maud, French Martine, Bouvier Raymonde, Prieur Fabienne, Couque Nathalie, Delezoide Anne Lise, Leblanc Thierry, Mohandas Narla, Touraine Renaud

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Share to Anemia, Diamond-Blackfan
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fetal Death

Share to Fetal Growth Retardation

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Share to Limb Deformities, Congenital

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Source

Identifiers

PMID: 23349008
DOI: 10.1002/ajh.23366

Genes

RPS19

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond-Blackfan anemia.PMID 23349008Read ↗

First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond–Blackfan anemia.Semantic proximity Read ↗

Gene symbol: RPS19. Disease: Diamond-Blackfan anaemia.Semantic proximity Read ↗

[Clinical features and pathogenic gene detection of Diamond-Blackfan anemia].Semantic proximity Read ↗

Identification of novel mutations in patients with Diamond-Blackfan anemia and literature review of RPS10 and RPS26 mutations.Semantic proximity Read ↗

RPS19 mutations in patients with Diamond-Blackfan anemia.Semantic proximity Read ↗

Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in RPS19.Semantic proximity Read ↗

Utility of Whole Exome Sequencing in the Early Diagnosis of Atypical Diamond-Blackfan Anemia.Semantic proximity Read ↗

Genetic variants in the noncoding region of RPS19 gene in Diamond-Blackfan anemia: potential implications for phenotypic heterogeneity.Semantic proximity Read ↗

Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature.Semantic proximity Read ↗

Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population.Semantic proximity Read ↗

Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia.Semantic proximity Read ↗

Pediatric Diamond-Blackfan anemia in the Netherlands: An overview of clinical characteristics and underlying molecular defects.Semantic proximity Read ↗

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