CrossRef Text and Data Mining
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A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene
Won Ik Choi, Ji Hye Kim, Han Wook Yoo, Sung Hee Oh
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   Crossref logo
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Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene
Pediatric Nephrology. 2000;14(1):25-28   Crossref logo
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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):   Crossref logo
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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;   Crossref logo
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SALL1 mutations in Townes-Brocks syndrome and related disorders
Human Mutation. 2000;16(6):460-466   Crossref logo
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Townes-Brocks Syndrome (SALL1, 16q12.1)
Encyclopedia of Genetics, Genomics, Proteomics and Informatics. 2008;1985-1985   Crossref logo
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Unique family with Townes-Brocks syndrome,SALL1 mutation, and cardiac defects
American Journal of Medical Genetics. 2001;102(3):250-257   Crossref logo
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Embryonic expression of the murine homologue of SALL1, the gene mutated in Townes–Brocks syndrome
Mechanisms of Development. 2001;104(1-2):143-146   Crossref logo
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Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome
Nature Genetics. 1998;18(1):81-83   Crossref logo
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SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes
Human Mutation. 2008;29(9):1133-1140   Crossref logo
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