Myotonic dystrophy is a relatively common type of muscular dystrophy, associated with a
variety of systemic complications. Long term follow-up is difficult because of the slow …

Walker-Warburg syndrome (WWS) is an autosomal recessive multisystem disorder
characterized by complex eye and brain abnormalities with congenital muscular dystrophy …

Plastin 3 (PLS3), a protein involved in the formation of filamentous actin (F-actin) bundles,
appears to be important in human bone health, on the basis of pathogenic variants in PLS3 …

Background Mutant mouse models suggest that the chloride channel ClC-2 has functions in
ion and water homoeostasis, but this has not been confirmed in human beings. We aimed to …

Purpose Women with early-stage breast cancer may still have a future child wish, while
chemotherapy may impair fertility. To pursue on fertility preservation shortly after breast …

Background Heterozygous loss-of-function mutations in the X-linked CASK gene cause
progressive microcephaly with pontine and cerebellar hypoplasia (MICPCH) and severe …

Background: Mutations in the DNA polymerase-γ (POLG) gene are a major cause of
clinically heterogeneous mitochondrial diseases, associated with mtDNA depletion and …

We report on three Dutch children with a clinical diagnosis of oculoauriculovertebral
spectrum (OAVS) and hydrocephalus. The clinical features are compared to 15 published …

STUDY QUESTION Do BRCA1/2 mutation carriers have a compromised ovarian reserve
compared to proven non-carriers, based on serum anti-Müllerian hormone (AMH) levels …

Holoprosencephaly is a severe malformation of the brain characterized by abnormal
formation and separation of the developing central nervous system. The prevalence is 1 …