Abstract SATB2‐associated syndrome (SAS) is an autosomal dominant
neurodevelopmental disorder caused by alterations in the SATB2 gene. Here we present a …

Background Axenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment
anomalies, with or without systemic features. The discovery of causative genes identified …

The overall understanding of the molecular etiologies of intellectual disability (ID) and
developmental delay (DD) is increasing as next-generation sequencing technologies …

Although genetic testing is increasingly used in clinical nephrology, a large number of
patients with congenital abnormalities of the kidney and urinary tract (CAKUT) remain …

Methods: PubMed, Ovid MEDLINE, and Cochrane Library were systematically searched for
primary articles regarding the management of orthopaedic conditions in patients with LDS …

Dihydrolipoamide dehydrogenase deficiency, also known as maple syrup urine disease
(MSUD) type III, is caused by the deficiency of the E3 subunit of branched chain alpha …

Macrocerebellum is a rare condition characterized by enlargement of the cerebellum with
conservation of the overall shape and cytoarchitecture. Here, we report on a child with a …

Holocarboxylase synthetase (HLCS) deficiency is a rare autosomal recessive disorder that
presents with multiple life-threatening metabolic derangements including metabolic …

This article describes a novel and interdisciplinary context for learning about real-world
sound waves. The'song'of the plainfin midshipman fish consists of an acoustical wave that is …

The advent of molecular biology has paved way for an era of personalized medicine.
Though medical disciplines such as oncology and cardiology are advanced in their use of …