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| A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the |
| Won Ik Choi, Ji Hye Kim, Han Wook Yoo, Sung Hee Oh |
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Clin Exp Pediatr. 2010;53(12):1018-1021. Published online December 31, 2010 DOI: https://doi.org/10.3345/kjp.2010.53.12.1018 |
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A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of theSALL1gene Korean Journal of Pediatrics. 2010;53(12):1018  Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene Pediatric Nephrology. 2000;14(1):25-28 Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss BMC Medical Genomics. 2021;14(1): Whole-exome Sequencing Identified a Novel Heterozygous Mutation of SALL1 and a New Homozygous Mutation of PTPRQ in a Chinese Family With Townes-brocks Syndrome and Hearing Loss . 2021; SALL1 mutations in Townes-Brocks syndrome and related disorders Human Mutation. 2000;16(6):460-466 Townes-Brocks Syndrome (SALL1, 16q12.1) Encyclopedia of Genetics, Genomics, Proteomics and Informatics. 2008;1985-1985 Unique family with Townes-Brocks syndrome,SALL1 mutation, and cardiac defects American Journal of Medical Genetics. 2001;102(3):250-257 Embryonic expression of the murine homologue of SALL1, the gene mutated in Townes–Brocks syndrome Mechanisms of Development. 2001;104(1-2):143-146 Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome Nature Genetics. 1998;18(1):81-83 SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes Human Mutation. 2008;29(9):1133-1140 |
