Benign, Pathogenic and Copy Number Variations of Unknown Clinical Significance in Patients with Congenital Malformations and Developmental Delay

The high frequency (3.0-5.0%) of congenital anomalies (CA) and intellectual disabilities (IDs), make them a serious problem, responsible for a high percentage (33.0%) of neonatal mortality. The genetic cause remains unclear in 40.0% of cases. Recently, molecular karyotyping has become the most power...

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Detalles Bibliográficos
Autores principales: Mihaylova, M, Staneva, R, Toncheva, D, Pancheva, M, Hadjidekova, S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: De Gruyter 2017
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596816/
https://www.ncbi.nlm.nih.gov/pubmed/28924535
http://dx.doi.org/10.1515/bjmg-2017-0010

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596816/
https://www.ncbi.nlm.nih.gov/pubmed/28924535
http://dx.doi.org/10.1515/bjmg-2017-0010

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