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

Hypertrichosis is defined as an excessive growth in body hair beyond the normal variation
compared with individuals of the same age, race and sex and affecting areas not …

To understand how diversity is distributed in space is a fundamental aim for optimizing future
species and community conservation. We examined in parallel species richness and beta …

Background The targeted application of cutting-edge high-throughput molecular data
technologies provides an enormous opportunity to address key health, economic and …

The prevalence of autism spectrum disorders (ASD) and the number of identified ASD‐
related genes have increased in recent years. The SETD5 gene encodes a SET‐containing …

Dysfunction of the centrosome, the major microtubule-organizing center of the cell, is
implicated in microcephaly. Haploinsufficiency of mixed-lineage leukemia (MLL/KMT2A) …

Wiedemann-Steiner syndrome (WDSTS) is a very rare genetic disorder characterized by
short stature, intellectual disability and distinctive facial appearance. We present a five-year …

Variants in KMT2A, encoding the histone methyltransferase KMT2A, are a growing cause of
intellectual disability (ID). Up to now, the majority of KMT2A variants are non-sense and …

Syndromic primary immunodeficiencies are rare genetic disorders that affect both the
immune system and other organ systems. More often, the immune defect is not the major …

Wiedemann–Steiner Syndrome (WSS) is an autosomal dominant disorder characterized by
hypertrichosis, short stature, intellectual disability, developmental delay, and facial …