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RAPADILINO Syndrome - Musharof Chy

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Molecular Defect of RAPADILINO Syndrome Expands the Phenotype Spectrum of RECQL Diseases

Abstract of an article by Siitonen et al describing the genetics of RAPADILINO.

947 vues
25 janv. 2025

Orphanet: RAPADILINO Syndrome

Portal for information on this rare disorder.

877 vues
25 janv. 2025

Online Mendelian Inheritance in Man

Lists references, clinical symptoms, and genetics.

477 vues
25 janv. 2025