Phenotypic discordance in monozygotic twins with a CDH2 variant

European Journal of Medical Genetics · Published 2026-04-15 · DOI 10.1016/j.ejmg.2026.105079

Authors being retrieved — see the publisher record. https://doi.org/10.1016/j.ejmg.2026.105079

Abstract

PubPorta does not have an abstract for this article yet.

Read the article at the publisher →

Publication details

Year: 2026

Related articles

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology · Genetics in Medicine · 2015 · Cites or is cited by this article
Pathogenic variant in GATA4 associated with atrioventricular septal defect and congenital diaphragmatic hernia: A case report · European Journal of Medical Genetics · 2025 · Same journal
A fetal case of Stüve-Wiedemann syndrome due to a novel homozygous truncating variant in IL6ST · European Journal of Medical Genetics · 2025 · Same journal
Tachycardiomyopathy-like presentation in neonatal MCAD deficiency: A novel cardiac phenotype · European Journal of Medical Genetics · 2026 · Same journal
Rare features in Feingold syndrome type 1 · European Journal of Medical Genetics · 2025 · Same journal
Two new cases of fragile X syndrome without CGG triplet expansion. Clinical-molecular characterization and review of the literature · European Journal of Medical Genetics · 2026 · Same journal
Chromosome heteromorphisms: Critical literature review finds No convincing evidence of harm · European Journal of Medical Genetics · 2025 · Same journal
COL12A1-related myopathic Ehlers–Danlos syndrome with Chiari I malformation: A clinical report · European Journal of Medical Genetics · 2025 · Same journal
Cost-comparison of resequencing versus archival data methods for periodic reanalysis of genomic data in rare diseases diagnosis: A UK pilot analysis · European Journal of Medical Genetics · 2025 · Same journal
SPIN4-related X-linked overgrowth in a family · European Journal of Medical Genetics · 2026 · Same journal