Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20-Reference-Cited by-同舟云学术

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

Published:2020-02-18 Issue:8 Volume:28 Page:1044-1055
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Juven Aurélien,Nambot Sophie,Piton Amélie^ORCID,Jean-Marçais Nolwenn,Masurel Alice,Callier Patrick,Marle Nathalie,Mosca-Boidron Anne-Laure,Kuentz Paul^ORCID,Philippe Christophe,Chevarin Martin^ORCID,Duffourd Yannis,Gautier Elodie,Munnich Arnold,Rio Marlène,Rondeau Sophie,El Chehadeh Salima,Schaefer Élise,Gérard Bénédicte,Bouquillon Sonia,Delorme Catherine Vincent,Francannet Christine,Laffargue Fanny,Gouas Laetitia,Isidor Bertrand,Vincent Marie^ORCID,Blesson Sophie,Giuliano Fabienne,Pichon Olivier,Le Caignec Cédric,Journel Hubert,Perrin-Sabourin Laurence,Fabre-Teste Jennifer,Martin Dominique,Vieville Gaelle,Dieterich Klaus^ORCID,Lacombe Didier,Denommé-Pichon Anne-Sophie^ORCID,Thauvin-Robinet Christel,Faivre Laurence

Funder

Conseil régional de Bourgogne-Franche-Comté

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s41431-020-0582-3.pdf

Reference26 articles.

1. Flore LA, Milunsky JM. Updates in the genetic evaluation of the child with global developmental delay or intellectual disability. Semin Pediatr Neurol. 2012;19:173–80.

2. Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, et al. A copy number variation morbidity map of developmental delay. Nat Genet. 2015;43:838–46.

3. Retterer K, Juusola J, Cho MT, Vitazka P, Millan F, Gibellini F, et al. Clinical application of whole-exome sequencing across clinical indications. Genet Med. 2016;18:696–704.