Article

Disruption in SLCO5A1 gene by a balanced chromosomal translocation t(1;8)(p32.2;q13). Another evidence of the need for combined haploinsufficiency of genes SLCO5A1 and SULF1 genes as a cause of mesomelia-synostosis syndrome. Clinical and cytogenetic considerations.

2022-11-22

Abstract excerpt

<h4>Background: </h4> Apparently balanced translocations (ABTs) are a widely used tool for delineating candidate regions for genotype-phenotype correlation of Mendelian diseases, and with the advance of new technologies new methods are emerging to help us in this search. Case presentation: We presente a patiente with developmental deficit associated with an apparently balanced "de novo" translocation [t(1;8)(p32....

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Literature Corpus work: f756eb97-4b71-5bbc-a01d-7046f4087d32
DOI: 10.21203/rs.3.rs-2288275/v1

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Disruption in SLCO5A1 gene by a balanced chromosomal translocation t(1;8)(p32.2;q13). Another evidence of the need for combined haploinsufficiency of genes SLCO5A1 and SULF1 genes as a cause of mesomelia-synostosis syndrome. Clinical and cytogenetic considerations.DOI 10.21203/rs.3.rs-2288275/v1Read

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