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Cytogenomic Characterization of a Novel de novo Balanced Reciprocal Translocation t(1;12) by Genome Sequencing Leading to Fusion Gene Formation of EYA3/EFCAB4b

Autor: Dutta, Usha R., Bhattacherjee, Amrita, Bahal, Ashish, Posanapally, Laxmi P., Lone, Kaisar A., Bathula, Siddardha, Dalal, Ashwin

Publikováno v: Mol Syndromol

INTRODUCTION: The accurate detection of breakpoint regions of disease-associated chromosomal rearrangements helps understand the molecular mechanisms and identify the risks involved with disrupted genes. METHODS: In this study, a girl with growth ret

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::132585b5a15275c88a1c3e47147854f3
https://europepmc.org/articles/PMC9801327/

Cytogenomic Characterization of a Novel de novo Balanced Reciprocal Translocation t(1;12) by Genome Sequencing Leading to Fusion Gene Formation of EYA3/EFCAB4b .

Autor: Dutta UR; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India., Bhattacherjee A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India., Bahal A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India., Posanapally LP; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India., Lone KA; Laboratory of Cell Cycle Regulation, Hyderabad, India., Bathula S; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India., Dalal A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.

Publikováno v: Molecular syndromology [Mol Syndromol] 2022 Dec; Vol. 13 (5), pp. 370-380. Date of Electronic Publication: 2022 Mar 16.