The prevalence of prenatal sonographic findings in postnatal diagnostic exome sequencing performed for neurocognitive phenotypes: A cohort study

OBJECTIVE: Prenatal exome sequencing (ES) is currently indicated for fetal malformations. Some neurocognitive genetic disorders may not have a prenatal phenotype. We assessed the prevalence of prenatally detectable phenotypes among patients with neurocognitive syndromes diagnosed postnatally by ES....

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Detalles Bibliográficos
Autores principales: Sukenik‐Halevy, Rivka, Perlman, Sharon, Ruhrman‐Shahar, Noa, Engel, Offra, Orenstein, Naama, Gonzaga‐Jauregui, Claudia, Shuldiner, Alan R., Magal, Nurit, Hagari, Ofir, Azulay, Noy, Lidzbarsky, Gabriel Arie, Bazak, Lily, Basel‐Salmon, Lina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Fetal Sequencing: Progress, Challenges and the Future (Part 1)
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9303252/
https://www.ncbi.nlm.nih.gov/pubmed/35032046
http://dx.doi.org/10.1002/pd.6095

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9303252/
https://www.ncbi.nlm.nih.gov/pubmed/35032046
http://dx.doi.org/10.1002/pd.6095

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