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Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies

Crossref DOI link: https://doi.org/10.1186/s12881-018-0589-6

Published Online: 2018-05-10

Published Print: 2018-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Jorge, Paula http://orcid.org/0000-0002-6507-222X
Garcia, Elsa

Gonçalves, Ana

Marques, Isabel

Maia, Nuno

Rodrigues, Bárbara

Santos, Helena

Fonseca, Jacinta

Soares, Gabriela

Correia, Cecília

Reis-Lima, Margarida

Cirigliano, Vincenzo

Santos, Rosário
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Article History

Received: 16 October 2017

Accepted: 19 April 2018

First Online: 10 May 2018

Ethics approval and consent to participate

: Proband’s parents, signed informed consent for the use of DNA samples in intellectual disability research. This study has been approved by the medical ethical committee of the Centro Hospitalar do Porto (CHP, E.P.E.) - REF 2014.203 (144-DEFI/173-CES).

: Proband’s parents, signed informed consent for publication that includes medical information and photographs.

: Dr. Paula Jorge is an Associate Editor for BMC Medical Genetics. The remaining authors declare that they have no competing interests.

: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.