eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | acrocephalosyndactyly |
| Comorbidity | C0004134|ataxia |
| Sentences | 1 |
| PubMedID- 23497566 | Methods: sequencing of sacs in 22 patients with unexplained early-onset ataxia, assessment of novel sacs variants in 3.500 european control chromosomes and extensive phenotypic investigations of all sacs carriers. |
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