Importance of patient selection criteria in determining diagnostic copy number variations in patients with multiple congenital anomaly/mental retardation

BACKGROUND: Etiology of developmental delay/intellectual disability is very heterogeneous. In recent years, genetic causes have been defined through the use of chromosomal microarray analysis as a first step genetic test. RESULTS: Samples from 30 patients with multiple congenital anomaly and/or ment...

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Detalles Bibliográficos
Autores principales: Altıner, Şule, Yürür Kutlay, Nüket
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6537423/
https://www.ncbi.nlm.nih.gov/pubmed/31149029
http://dx.doi.org/10.1186/s13039-019-0436-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6537423/
https://www.ncbi.nlm.nih.gov/pubmed/31149029
http://dx.doi.org/10.1186/s13039-019-0436-2

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