Background Lynch syndrome is caused by germline mutations in MSH2, MLH1, MSH6, and
PMS2 mismatch-repair genes and leads to a high risk of colorectal and endometrial cancer. …

We describe a female subject (DGAP100) with a 46,X,t(X;5)(p11.3;q35.3)inv(5)(q35.3q35.1)dn,
severe psychomotor retardation with hypotonia, global postnatal growth restriction, …

Background The use of proactive genetic screening for disease prevention and early
detection is not yet widespread. Professional practice guidelines from the American College of …

Background AUTS2 syndrome is an ‘intellectual disability (ID) syndrome’ caused by genomic
rearrangements, deletions, intragenic duplications or mutations disrupting AUTS2. So far, …

Background ATP8A2 mutations have recently been described in several patients with severe,
early-onset hypotonia and cognitive impairment. The aim of our study was to characterize …

The present study explored whether early midlife bilateral salpingo-oophorectomy (BSO), a
female-specific risk factor for dementia, is associated with reduced medial temporal lobe …

Importance Magnetic resonance imaging (MRI) surveillance is offered to women with a
pathogenic variant in theBRCA1orBRCA2gene who face a high lifetime risk of breast cancer. …

SATB2‐Associated syndrome (SAS) is an autosomal dominant, multisystemic, neurodevelopmental
disorder due to alterations in SATB2 at 2q33.1. A limited number of individuals with …

Galactosialidosis (GS) is an autosomal recessive condition caused by combined deficiency
of the lysosomal enzymes β‐galactosidase and α‐neuraminidase. The combined deficiency …

Smith‐Lemli‐Opitz syndrome (RHS) (SLOS, OMIM 270400) is an autosomal recessive
disorder of cholesterol biosynthesis caused by mutations of the 3β‐hydroxysterol Δ 7 ‐Δ 8 ‐…