Cargando…
Analysis of trio test in neurodevelopmental disorders
BACKGROUND: Trio test has been widely used for diagnosis of various hereditary disorders. We aimed to investigate the contribution of trio test in genetically diagnosing neurodevelopmental disorders (NDD). METHODS: We retrospectively reviewed 2,059 NDD cases with genetic test results. The trio test...
Autores principales: | Kim, Se Hee, Kwon, Soon Sung, Lee, Joon Soo, Kim, Heung Dong, Lee, Seung-Tae, Choi, Jong Rak, Shin, Saeam, Kang, Hoon-Chul |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9816327/ https://www.ncbi.nlm.nih.gov/pubmed/36619507 http://dx.doi.org/10.3389/fped.2022.1073083 |
Ejemplares similares
-
The extended clinical and genetic spectrum of CTNNB1-related neurodevelopmental disorder
por: Lee, Seungbok, et al.
Publicado: (2022) -
Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development
por: Kwon, Soon Sung, et al.
Publicado: (2018) -
Severe Retinopathy of Prematurity Associated With Neurodevelopmental Disorder in Children
por: Choi, Young-Jin, et al.
Publicado: (2022) -
t(12;17)(p13;q12)/TAF15-ZNF384 Rearrangement in Acute Lymphoblastic Leukemia
por: Kim, Jieun, et al.
Publicado: (2016) -
Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing
por: Rim, John Hoon, et al.
Publicado: (2018)