Haploinsufficiency of AUTS2 has been associated with a syndromic form of
neurodevelopmental delay characterized by intellectual disability, autistic features, and …

Wolf–Hirschhorn syndrome (WHS) has been considered a contiguous gene syndrome with
a critical region within 4p16. 3. In 1997, Wright et al. through an overlapping deletion …

Background A proportion of de novo variants in patients affected by genetic disorders,
particularly those with autosomal dominant (AD) inheritance, could be the consequence of …

Schuurs–Hoeijmakers syndrome (SHMS) or PACS1 Neurodevelopmental disorder is a rare
disorder characterized by intellectual disability, abnormal craniofacial features and …

Many patients experiencing a rare disease remain undiagnosed even after genomic testing.
Reanalysis of existing genomic data has shown to increase diagnostic yield, although there …

Abstract Tatton-Brown-Rahman (TBRS) syndrome is a recently described overgrowth
syndrome caused by loss of function variants in the DNMT3A gene. This gene encodes for a …

DDX3X is a multifunctional ATP‐dependent RNA helicase involved in several processes of
RNA metabolism and in other biological pathways such as cell cycle control, innate …

Abstract Mosaic Variegated Aneuploidy Syndrome 2 (MVA2; MIM 614114) is a rare
autosomal recessive disorder, characterized by mosaic aneuploidies involving multiple …

Aymé‐Gripp syndrome (AYGRPS) is a recognizable condition caused by a restricted
spectrum of dominantly acting missense mutations affecting the transcription factor MAF …

We report on a new patient with a 7q terminal deletion. The 18‐month‐old boy had metal
retardation, microcephaly, a distinctive face, bilateral coloboma, café‐au‐lait spot on the …