eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | townes brocks syndrome |
| Comorbidity | C0010308|congenital hypothyroidism |
| Sentences | 1 |
| PubMedID- 21253317 | The patient with townes-brocks syndrome associated with congenital hypothyroidism in this report was confirmed to have a novel single base pair deletion at nucleotide position 1470 (c.1470delg) in exon 2 of sall1 gene, resulting in a frameshift mutation which was inherited from his mother. |
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