Clinical and genetic findings in patients with congenital cataract and heart diseases

Clinical and genetic findings in patients with congenital cataract and heart diseases

Abstract Background Congenital cataract (CC) and congenital heart disease (CHD) are significant birth defects. In clinical practice, the concurrence of CC and CHD is frequently observed in patients. Additionally, some monogenic diseases, copy number variation (CNV) syndromes, and diseases associated...

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Bibliographic Details
Main Authors: Xinru Li, Nuo Si, Zixun Song, Yaqiong Ren, Wei Xiao
Format: Article
Language:English
Published: BMC 2021-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Congenital cataract
Congenital heart diseases
Microarray-based comparative genomic hybridisation
Whole exome sequencing
DECIPHER
Down’s syndrome
Online Access:https://doi.org/10.1186/s13023-021-01873-7

Internet

https://doi.org/10.1186/s13023-021-01873-7

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