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Home > For Clinicians > List Of Publications > Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome

Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome

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Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes

The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.

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