PMC:3591859 / 8667-9103 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/3591859","sourcedb":"PMC","sourceid":"3591859","source_url":"https://www.ncbi.nlm.nih.gov/pmc/3591859","text":"To determine whether RTEL1 mutations are specific to individuals with an HHS phenotype, we screened 102 index cases with DC or related BM-failure syndromes. No biallelic mutations were found in this large group, suggesting that biallelic RTEL1 mutations are a relatively common cause of HHS, defined by presentation with a minimum of BM failure and cerebellar hypoplasia, but are not a major cause of DC or related BM-failure syndromes.","tracks":[]}