A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells
Z Awamleh, S Choufani, W Wu, D Rots… - European Journal of …, 2024 - nature.com
Pathogenic variants in KANSL1 and 17q21. 31 microdeletions are causative of Koolen-de
Vries syndrome (KdVS), a neurodevelopmental syndrome with characteristic facial …
Vries syndrome (KdVS), a neurodevelopmental syndrome with characteristic facial …
Multi-ancestry Genome-Wide Association Study of Early Childhood Caries
Early childhood caries (ECC) is the most common non-communicable childhood disease. It
is an important health problem with known environmental and social/behavioral influences …
is an important health problem with known environmental and social/behavioral influences …
AMOTL1-Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver …
N Gallego-Zazo, J Tenorio-Castano… - Clinical …, 2025 - pubmed.ncbi.nlm.nih.gov
We identified an AMOTL1 variant in a patient that adds evidence supporting the clinical and
molecular overlap between AMOTL1-related disorders and other syndromes affecting …
molecular overlap between AMOTL1-related disorders and other syndromes affecting …
Multi-Ancestry Genome-Wide Association Study of Early Childhood Caries and Developmental Defects of Enamel in a Community-Based Sample of Preschool-Age …
P Shrestha - 2023 - search.proquest.com
Early childhood caries (ECC) is the most common non-communicable disease of childhood
and it confers a substantial public health burden. Developmental defects of enamel (DDE) …
and it confers a substantial public health burden. Developmental defects of enamel (DDE) …