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Article

The First Patient with Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome Caused by De Novo c.423+4916 T>C ZRS Variant: A Case Report.

International journal of molecular sciences - 29 Aug 2024

Zepeda-Olmos Paola Montserrat, Robles-Espinoza Kiabeth, Esparza-García Eduardo, Magaña-Torres María Teresa

Abstract excerpt

Genetic variants in the zone of polarizing activity regulatory sequence (ZRS) that induce ectopic expression of the SHH gene have been associated with different ZRS-related phenotypes. We report the first patient with a de novo variant, c.423+4916 T>C, in ZRS (previously classified as a variant of uncertain significance) that causes tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS). A...

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PMID: 39273297
DOI: 10.3390/ijms25179348
PMCID: PMC11394837

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