Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach

Chitty, Lyn S; Mason, Sarah; Barrett, Angela N; McKay, Fiona; Lench, Nicholas; Daley, Rebecca; Jenkins, Lucy A

Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach

journal contribution

posted on 2024-06-19, 19:36 authored by Lyn S Chitty, Sarah Mason, Angela N Barrett, Fiona McKayFiona McKay, Nicholas Lench, Rebecca Daley, Lucy A Jenkins

Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach

History

Journal

PRENATAL DIAGNOSIS

Volume

35

Pagination

656-662

Location

England

Publisher DOI

https://doi.org/10.1002/pd.4583

ISSN

0197-3851

eISSN

1097-0223

Language

English

Author URL

https://www.ncbi.nlm.nih.gov/pubmed/25728633

Issue

7

Publisher

WILEY

Publication URL

http://dx.doi.org/10.1002/pd.4583

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Keywords

Science & Technology Life Sciences & Biomedicine Genetics & Heredity Obstetrics & Gynecology FIBROBLAST-GROWTH-FACTOR SINGLE-GENE DISORDERS FACTOR RECEPTOR-3 MUTATIONS IMPLEMENTATION BENEFITS DOMAIN USERS DNA

Licence

CC BY-NC-ND 4.0

Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach

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