CHD is frequently associated with a genetic syndrome. These syndromes often present
specific cardiovascular and non-cardiovascular co-morbidities that confer significant peri …

Smith–Magenis syndrome (SMS) is a multisystem disorder characterized by developmental
delay and mental retardation, a distinctive behavioral phenotype, and sleep disturbance. We …

Congenital heart disease (CHD) is the common birth defect worldwide. Despite its
recognized burden on public health, the etiology in the vast majority of individuals remains …

Smith–Magenis syndrome (SMS) is a genetic disorder characterized by multiple congenital
anomalies, sleep disturbance, behavioral impairment, and intellectual disability. Its genetic …

Primary cilia are small organelles projecting from the cell surface of many cell types. They
play a crucial role in the regulation of various signaling pathway. In this study, we …

Abstract Objective Smith–Magenis syndrome (SMS) is a multiple congenital
anomalies/mental retardation disorder characterized by an interstitial deletion involving …

Abstract Monozygotic 3.5-year-old twin boys presented for developmental assessment with
a history of global developmental delay, behavioral issues including self-harm, and severe …

Background Diagnosis of atrial fibrillation (AF) can be difficult, requiring cumbersome
investigations. We aimed to determine the association of established whole‐blood gene …

A 6‐month‐old girl had multiple congenital anomalies, including dysmorphic face; tetralogy
of Fallot, pulmonary atresia and patent ductus arteriosus; congenital cystic adenomatoid …

Smith-Magenis syndrome (SMS) is a rare syndrome with multiple congenital malformations,
including development and mental retardation, behavioral problems and a distinct facial …