Structural variants (SVs) and short tandem repeats (STRs) comprise a broad group of
diverse DNA variants which vastly differ in their sizes and distributions across the genome …

MN1 encodes a transcriptional co-regulator without homology to other proteins, previously
implicated in acute myeloid leukaemia and development of the palate. Large deletions …

Structural variants (SVs) and short tandem repeats (STRs) are important sources of genetic
diversity but are not routinely analyzed in genetic studies because they are difficult to …

It is essential to complete palate closure at the correct time during fetal development,
otherwise a serious malformation, cleft palate, will ensue. The steps in palate formation in …

Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect for
which only~ 20% of the underlying genetic variation has been identified. Variants in …

In this chapter, we focus on inherited or de novo human mutations associated with autism
spectrum disorder (ASD) or intellectual disability (ID) disorder, which involve members of the …

Abstract MN1 C‐terminal truncation (MCTT) syndrome is a newly recognized
neurodevelopmental disorder due to heterozygous gain‐of‐function C‐terminal truncating …

MN1 C-terminal truncation (MCTT) syndrome was first reported in 2020 and only 28 patients
have been recorded to date. Since MCTT syndrome is a newly defined and rare syndrome …

Introduction: In contrast with the well-known and described deletion of the 22q11
chromosome region responsible for DiGeorge syndrome, 22q12 deletions are much rarer …

We read with interest the Letter to the Editor by Shu et al.(2021), describing members of a
family presenting cleft palate and conductive hearing loss in association with a truncating …