Wiedemann‐Steiner syndrome (WSS) is a rare syndromic condition in which intellectual
disability (ID) is associated with hypertrichosis cubiti, short stature, and characteristic facies …

We investigated the genetic, phenotypic, and interferon status of 46 patients from 37 families
with neurological disease due to mutations in ADAR1. The clinicoradiological phenotype …

Postsynaptic density (PSD) proteins have been implicated in the pathophysiology of
neurodevelopmental and psychiatric disorders. Here, we present detailed clinical and …

Cells rely on a diverse repertoire of genes for maintaining homeostasis, but the
transcriptional networks underlying their expression remain poorly understood. The MOF …

CANAC1C encodes for the main cardiac L-type calcium channel and mutations on it lead to
a prolonged QT interval in Timothy Syndrome (TS). We provide a new de novo constitutional …

Chromatin is essentially an array of nucleosomes, each of which consists of the DNA double-
stranded fiber wrapped around a histone octamer. This organization supports cellular …

Steroidogenic factor 1 (encoded by SF1/NR5A1) is a transcription factor with multiple target
genes involved in the development and function of multiple steroidogenic and non …

Molecular anomalies in MED13L, leading to haploinsufficiency, have been reported in
patients with moderate to severe intellectual disability (ID) and distinct facial features, with or …

Objectives Emergency medical services clinicians do not transport one-third of all children
assessed, even without official pediatric non-transport protocols. Little is known about how …

Congenital limb malformations (CLM) comprise many conditions affecting limbs and more
than 150 associated genes have been reported. Due to this large heterogeneity, a high …