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| Genomic newborn screening: ICoNS v0.35 | RPS24 |
Jorune Balciuniene gene: RPS24 was added gene: RPS24 was added to Genomic newborn screening: ICoNS. Sources: Literature Mode of inheritance for gene: RPS24 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPS24 were set to 39568018, 17186470, 25946618 Phenotypes for gene: RPS24 were set to Diamond-blackfan anemia 3 Penetrance for gene: RPS24 were set to unknown Review for gene: RPS24 was set to GREEN Added comment: Accounts for 2-3% of all DBA. More than 90% of DBA patients present during the first year of life. The diagnosis is generally made at 3 months, of age with a range from birth to adulthood. Treatment: Corticosteroids and red blood cell transfusions are the mainstays of therapy. Curative treatment - hematopoietic stem cell transplantation Sources: Literature |
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