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Article

3 Citations

3,613 Views

12 Pages

Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples

Francesca Peluso,
Stefano Giuseppe Caraffi,
Roberta Zuntini,
Gabriele Trimarchi,
Ivan Ivanovski,
Lara Valeri,
Veronica Barbieri,
Maria Marinelli,
Alessia Pancaldi and
Livia Garavelli
+ 12 authors

Genes2021, 12(7), 962;https://doi.org/10.3390/genes12070962

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24 June 2021

We report on two siblings suffering from different pathogenic conditions, born to consanguineous parents. A multigene panel for brain malformations and microcephaly identified the homozygous splicing variant NM_005886.3:c.1416+1del in the KATNB1 gene...

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Case Report

2,275 Views

6 Pages

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

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

Int. J. Mol. Sci.2024, 25(17), 9348;https://doi.org/10.3390/ijms25179348

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29 August 2024

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&...

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