Abstract Background CHARGE syndrome (OMIM# 214800) is a phenotypically complex
genetic condition characterised by multi-system, multi-sensory impairments. Behavioural …

Combined Immunodeficiencies (CID) are rare congenital disorders characterized by
defective T-cell development that may be associated with B-and NK-cell deficiency. They are …

De novo truncating variants in fibrosin-like 1 (FBRSL1), a member of the AUTS2 gene family,
cause a disability syndrome, including organ malformations such as heart defects. Here, we …

RNA sequencing (RNA-seq) is emerging in genetic diagnoses as it provides functional
support for the interpretation of variants of uncertain significance. However, the use of …

The use of next-generation sequencing has provided new insights into the causes and
mechanisms of congenital heart disease (CHD). Examinations of the whole exome …

Conotruncal heart defects (CTD), subtypes of congenital heart disease, result from abnormal
cardiac outflow tract development (OFT). FOXC1 and FOXC2 are closely related members of …

Autism spectrum disorder (ASD) and congenital heart disease (CHD) are linked on a
functional and genetic level. Most work has investigated CHD‐related neurodevelopmental …

Congenital heart disease (CHD) is the most prevalent hereditary disorder, affecting∼ 1% of
all live births. Reduction in morbidity and mortality has been achieved with advancements in …

合并喉气道病变的CHARGE综合征人工耳蜗植入- PMC Back to Top Skip to main content NIH
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In this special issue of the American Journal of Medical Genetics Part C, we focus on the
“State of Congenital Heart Disease.” We anticipate that after viewing this journal, the reader …