Background Orodental diseases include several clinically and genetically heterogeneous
disorders that can present in isolation or as part of a genetic syndrome. Due to the vast …

Background/Aims: Calcium homeostasis requires regulated cellular and interstitial systems
interacting to modulate the activity and movement of this ion. Disruption of these systems in …

Stress granules (SGs) are cytoplasmic assemblies in response to a variety of stressors. We
report a new neurodevelopmental disorder (NDD) with common features of language …

Summary Background Primary Ovarian Insufficiency (POI), a public health problem, affects 1-
3.7% of women under 40 yielding infertility and a shorter lifespan. Most causes are …

Holoprosencephaly (HPE) is the most common congenital cerebral malformation in humans,
characterized by impaired forebrain cleavage and midline facial anomalies. It presents a …

Abstract Ataxia‐telangiectasia (A‐T) is a recessive disorder caused by biallelic pathogenic
variants of ataxia‐telangiectasia mutated (ATM). This disease is characterized by …

Purpose ARF1 was previously implicated in periventricular nodular heterotopia (PVNH) in
only five individuals and systematic clinical characterisation was not available. The aim of …

Background Bohring-Opitz syndrome (BOS) is a rare genetic disorder characterised by a
recognisable craniofacial appearance and a typical 'BOS'posture. BOS is caused by …

Background PRSS1 was the first reported chronic pancreatitis (CP) gene. The existence of
both gain-of-function (GoF) and gain-of-proteotoxicity (GoP) pathological PRSS1 variants …

Background Data on dermatological manifestations of Costello syndrome (CS) remain
heterogeneous and lack in validated description. Objectives To describe the dermatological …