https://parpreceptor.com/index.....php/transcranial-ho
Phenotypes of 17 providers with heterozygous PARN variants included 4 (24%) with hematologic abnormalities, 67% with lymphocyte telomere lengths assessed by movement cytometry and fluorescence in situ hybridization at or over the 10th percentile, and a top penetrance for ILD. Alternative etiologies for cytopenias and/or ILD such as for example autoimmune functions were noted in numerous TBD families, emphasizing the need to keep clinical suspicion fo
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