Recurrent genomic rearrangements at 16p11. 2 BP4-5 represent one of the most common
causes of genomic disorders. Originally associated with increased risk for autism spectrum …

Introduction The human genome contains the instructions for the development and
biological homeostasis of the human organism and the genetic transmission of traits …

Clinical characterization of a patient phenotype has been the quintessential approach for
elucidating a differential diagnosis and a hypothesis to explore a potential clinical diagnosis …

Congenital anomalies of the kidney and urinary tract (CAKUTs) are the most common cause
of chronic kidney disease in children. Human 16p11. 2 deletions have been associated with …

TBX6 encodes transcription‐factor box 6, a transcription factor critical to paraxial mesoderm
segmentation and somitogenesis during embryonic development. TBX6 haploinsufficiency …

Variants involving TBX4 are associated with a wide variety of disorders, including pulmonary
arterial hypertension, ischiocoxopodopatellar syndrome (ICPPS)/small patella syndrome …

Abstract Type 1 Chiari malformation (C1M) is characterized by cerebellar tonsillar herniation
of 3–5 mm or more, the frequency of which is presumably much higher than one in 1000 …

Abstract ETS variant 1 (ETV1) is an oncogenic transcription factor. However, its role in
colorectal cancer has remained understudied. The present study demonstrated that ETV1 …

Neurodevelopmental disorders (NDDs) include a broad spectrum of pathological conditions
that affect> 4% of children worldwide, share common features and present a variegated …

Abstract Distal 1q21. 1 microdeletions have shown highly variable clinical expressivity and
incomplete penetrance, with affected individuals manifesting a broad spectrum of …