Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders

BACKGROUND: Rare denovo variants represent a significant cause of neurodevelopmental delay and intellectual disability (ID). METHODS: Exome sequencing was performed on 4351 patients with global developmental delay, seizures, microcephaly, macrocephaly, motor delay, delayed speech and language develo...

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Detalles Bibliográficos
Autores principales: Trinh, Joanne, Kandaswamy, Krishna Kumar, Werber, Martin, Weiss, Maximilian E. R., Oprea, Gabriela, Kishore, Shivendra, Lohmann, Katja, Rolfs, Arndt
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6593513/
https://www.ncbi.nlm.nih.gov/pubmed/31238879
http://dx.doi.org/10.1186/s11689-019-9270-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6593513/
https://www.ncbi.nlm.nih.gov/pubmed/31238879
http://dx.doi.org/10.1186/s11689-019-9270-4

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