Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early development

Neurodevelopmental disorders (NDDs) and congenital anomalies (CAs) are rare disorders with complex etiology. In this study, we investigated the less understood genomic overlap of copy number variants (CNVs) in two large cohorts of NDD and CA patients to identify de novo CNVs and candidate genes asso...

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Detalles Bibliográficos
Autores principales: Safizadeh Shabestari, Seyed Ali, Nassir, Nasna, Sopariwala, Samana, Karimov, Islam, Tambi, Richa, Zehra, Binte, Kosaji, Noor, Akter, Hosneara, Berdiev, Bakhrom K., Uddin, Mohammed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10449996/
https://www.ncbi.nlm.nih.gov/pubmed/36383254
http://dx.doi.org/10.1007/s00439-022-02482-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10449996/
https://www.ncbi.nlm.nih.gov/pubmed/36383254
http://dx.doi.org/10.1007/s00439-022-02482-5

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