A new approach for Next Generation Sequencing in prenatal diagnosis applied to a case of Charcot-Marie-Tooth syndrome

Prenat Diagn. 2015 Oct;35(10):1018-21. doi: 10.1002/pd.4627. Epub 2015 Jun 23.

Authors

Claudio Dello Russo¹, Francesco Padula², Gianluca Di Giacomo¹, Alvaro Mesoraca¹, Ivan Gabrielli¹, Domenico Bizzoco¹, Claudio Giorlandino²

Affiliations

¹ Altamedica, Fetal-Maternal Medical Centre-Department of Human Genetics, Rome, Italy.
² Altamedica, Fetal-Maternal Medical Centre-Department of Prenatal Diagnosis, Rome, Italy.

PMID: 26094742
DOI: 10.1002/pd.4627

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Charcot-Marie-Tooth Disease / diagnosis*
Female
High-Throughput Nucleotide Sequencing
Humans
Pregnancy
Prenatal Diagnosis / methods*