A next generation sequencing custom gene panel designed to distinguish isolated polydactyly from syndromic polydactyly during prenatal diagnosis

Congenit Anom (Kyoto). 2019 Nov;59(6):197-198. doi: 10.1111/cga.12328. Epub 2019 Mar 5.

Authors

Stefano Paolacci¹, Flavio Faletra², Paolo Enrico Maltese¹, Mariachiara Quadrifoglio², Matteo Bertelli³

Affiliations

¹ MAGI's Lab, Research Division, Via delle Maioliche, Rovereto, Italy.
² Institute for Maternal and Child Health, Department of Medical Genetics, Burlo Garofolo Institute, Trieste, Italy.
³ MAGI Euregio, Research Division, Via Maso della Pieve, Bolzano, Italy.

PMID: 30767287
DOI: 10.1111/cga.12328

No abstract available

Publication types

Case Reports

MeSH terms

Exome / genetics
Female
Genetic Testing
High-Throughput Nucleotide Sequencing
Humans
Mutation / genetics
Polydactyly / diagnosis*
Polydactyly / genetics
Pregnancy
Prenatal Diagnosis*